CIDeRplusGeneral Information:
| Id: | 5,383 |
| Diseases: |
Citrullinemia
- [OMIM]
Citrullinemia, adult-onset type II - [OMIM] Metabolic Ornithine transcarbamylase deficiency - [OMIM] |
| Homo sapiens | |
| review | |
| Reference: | Woo HI et al.(2014) Molecular genetics of citrullinemia types I and II Clin. Chim. Acta 431: 1-8 [PMID: 24508627] |
Interaction Information:
| Comment | Citrullinemia is an autosomal recessive disorder of the urea cycle. Citrullinemia type 1 (classical type) is caused through mutations in the CTLN1 gene encoding argininosuccinate synthase. Citrullinemia type 2 is caused through mutations in the liver-type isoform of SLC25A13 gene (called citrin) encoding an aspartate/glutamate carrier. SLC25A13 supplies aspartate to ASS1 (CTLN1). |
|
Formal Description Interaction-ID: 52468 |
|
| Drugbank entries | Show/Hide entries for SLC25A13 |
| Comment | Citrullinemia is an autosomal recessive disorder of the urea cycle. Citrullinemia type 1 (classical type) is caused through mutations in the CTLN1 gene encoding argininosuccinate synthase. Citrullinemia type 2 is caused through mutations in the SLC25A13 gene encoding an aspartate/glutamate carrier. |
|
Formal Description Interaction-ID: 52469 |
|
| Drugbank entries | Show/Hide entries for ASS1 |
| Comment | ASS1 (CTLN1, argininosuccinate synthase) encodes an enzyme involved in the urea cycle. SLC25A13 (CTLN2) encodes an aspartate/glutamate carrier also involved in the urea cycle. |
|
Formal Description Interaction-ID: 52471 |
|
| Drugbank entries | Show/Hide entries for ASS1 |
| Comment | ASS1 (CTLN1, argininosuccinate synthase) encodes an enzyme involved in the urea cycle. SLC25A13 (CTLN2) encodes an aspartate/glutamate carrier also involved in the urea cycle. CTLN2 is responsible for the aspartate supply. Citrin (SLC25A13, CTLN2) is a liver-type isoform of the mitochondrial aspartate-glutamate carrier SLC25A13. |
|
Formal Description Interaction-ID: 52476 |
|
| Drugbank entries | Show/Hide entries for SLC25A13 |
| Comment | ASS1, the third enzyme of the urea cycle, catalyzes citrulline and aspartate to generate argininosuccinate in the liver. |
|
Formal Description Interaction-ID: 52481 |
|
| Drugbank entries | Show/Hide entries for ASS1 or Argininosuccinate |
| Comment | ASS1, the third enzyme of the urea cycle, catalyzes citrulline and aspartate to generate argininosuccinate in the liver. |
|
Formal Description Interaction-ID: 52589 |
|
| Drugbank entries | Show/Hide entries for ASS1 |
| Comment | ASS1, the third enzyme of the urea cycle, catalyzes citrulline and aspartate to generate argininosuccinate in the liver. |
|
Formal Description Interaction-ID: 52590 |
|
| Drugbank entries | Show/Hide entries for ASS1 |
| Comment | ASS1, the third enzyme of the urea cycle, catalyzes citrulline and aspartate to generate argininosuccinate in the liver. |
|
Formal Description Interaction-ID: 52591 |
|
| Drugbank entries | Show/Hide entries for ASS1 |
| Comment | ASS1 is involved in the urea cycle in the liver and in arginine synthesis in the small intestine and kidney. |
|
Formal Description Interaction-ID: 52592 |
|
| Drugbank entries | Show/Hide entries for ASS1 |
| Comment | The following genes are involved in the urea cycle to produce urea from ammonia: CPS1 and OTC, both located in the mitochondrion, ASS1, ASL, and ARG1, all located in the cytoplasm. |
|
Formal Description Interaction-ID: 52593 |
|
| Drugbank entries | Show/Hide entries for CPS1 |
| Comment | The following genes are involved in the urea cycle to produce urea from ammonia: CPS1 and OTC, both located in the mitochondrion, ASS1, ASL, and ARG1, all located in the cytoplasm. |
|
Formal Description Interaction-ID: 52594 |
|
| Drugbank entries | Show/Hide entries for OTC |
| Comment | The following genes are involved in the urea cycle to produce urea from ammonia: CPS1 and OTC, both located in the mitochondrion, ASS1, ASL, and ARG1, all located in the cytoplasm. |
|
Formal Description Interaction-ID: 52595 |
|
| Drugbank entries | Show/Hide entries for ASL |
| Comment | The following genes are involved in the urea cycle to produce urea from ammonia: CPS1 and OTC, both located in the mitochondrion, ASS1, ASL, and ARG1, all located in the cytoplasm. |
|
Formal Description Interaction-ID: 52596 |
|
| Drugbank entries | Show/Hide entries for ARG1 |
| Comment | Citrin (SLC25A13, CTLN2) is a liver-type isoform of the mitochondrial aspartate-glutamate carriers. It supplies aspartate to the enzyme ASS1 (CTLN1). |
|
Formal Description Interaction-ID: 52597 |
|
| Drugbank entries | Show/Hide entries for SLC25A13 |
| Comment | Citrin (SLC25A13, CTLN2) is a liver-type isoform of the mitochondrial aspartate-glutamate carrier SLC25A13. It supplies aspartate to the enzyme ASS1 (CTLN1). |
|
Formal Description Interaction-ID: 52598 |
|
| Drugbank entries | Show/Hide entries for SLC25A13 |
| Comment | The urea cycle converts ammonia (NH3) into urea and is therefore responsible for the elimination of NH3 from a cell. |
|
Formal Description Interaction-ID: 52599 |
|
| Drugbank entries | Show/Hide entries for Urea |
| Comment | Citrullinemia type 2 is caused through mutations in the liver-type isoform of SLC25A13 gene (called citrin) encoding a mitochondrial aspartate/glutamate carrier located in the inner mitochondrial membrane. SLC25A13 supplies aspartate to ASS1 (CTLN1). |
|
Formal Description Interaction-ID: 52703 |
|
| Drugbank entries | Show/Hide entries for SLC25A13 |
| Comment | Citrullinemia type 2 is caused through mutations in the liver-type isoform of SLC25A13 gene (called citrin) encoding a mitochondrial aspartate/glutamate carrier. SLC25A13 supplies aspartate to ASS1 (CTLN1). |
|
Formal Description Interaction-ID: 52704 |
mRNA/protein variant is localized in cellular component |
| Comment | Citrullinemia is an autosomal recessive disorder of the urea cycle. Citrullinemia type 1 (classical type) is caused through mutations in the CTLN1 gene encoding argininosuccinate synthase. Citrullinemia type 2 is caused through mutations in the liver-type isoform of SLC25A13 gene (called citrin) encoding an aspartate/glutamate carrier. SLC25A13 supplies aspartate to ASS1 (CTLN1). |
|
Formal Description Interaction-ID: 52705 |
|
| Comment | Besides acting as aspartate/glutamate carrier, CTLN2 (SLC25A13, citrin, the liver-type isoform) is also part of the malate/aspartate NADH shuttle transferring reducing equivalents from the cytosol to mitochondria. Therefore citrin-deficiency also causes accumulation of NADH in the cytosol. |
|
Formal Description Interaction-ID: 52706 |
|
| Drugbank entries | Show/Hide entries for SLC25A13 |
| Comment | Besides acting as aspartate/glutamate carrier, CTLN2 (SLC25A13, citrin, the liver-type isoform) is also part of the malate/aspartate NADH shuttle transferring reducing equivalents from the cytosol to mitochondria. Therefore citrin-deficiency also causes accumulation of NADH in the cytosol. |
|
Formal Description Interaction-ID: 52707 |
|
| Drugbank entries | Show/Hide entries for SLC25A13 or NADH |
| Comment | The urea cycle converts ammonia (NH3) into urea and is therefore responsible for the elimination of NH3 from a cell. |
|
Formal Description Interaction-ID: 52708 |
|
| Comment | The following genes are involved in the urea cycle to produce urea from ammonia: CPS1 and OTC, both located in the mitochondrion, ASS1, ASL, and ARG1, all located in the cytoplasm. |
|
Formal Description Interaction-ID: 52709 |
|
| Drugbank entries | Show/Hide entries for OTC |
| Comment | The following genes are involved in the urea cycle to produce urea from ammonia: CPS1 and OTC, both located in the mitochondrion, ASS1, ASL, and ARG1, all located in the cytoplasm. |
|
Formal Description Interaction-ID: 52710 |
|
| Drugbank entries | Show/Hide entries for CPS1 |
| Comment | The following genes are involved in the urea cycle to produce urea from ammonia: CPS1 and OTC, both located in the mitochondrion, ASS1, ASL, and ARG1, all located in the cytoplasm. |
|
Formal Description Interaction-ID: 52711 |
|
| Drugbank entries | Show/Hide entries for ASS1 |
| Comment | The following genes are involved in the urea cycle to produce urea from ammonia: CPS1 and OTC, both located in the mitochondrion, ASS1, ASL, and ARG1, all located in the cytoplasm. |
|
Formal Description Interaction-ID: 52712 |
|
| Drugbank entries | Show/Hide entries for ASL |
| Comment | The following genes are involved in the urea cycle to produce urea from ammonia: CPS1 and OTC, both located in the mitochondrion, ASS1, ASL, and ARG1, all located in the cytoplasm. |
|
Formal Description Interaction-ID: 52713 |
|
| Drugbank entries | Show/Hide entries for ARG1 |
| Comment | ASL, an enzyme of the cytosolic part of the urea cycle, catalyzes the conversion of argininosuccinate to fumarate and arginine. |
|
Formal Description Interaction-ID: 52714 |
|
| Drugbank entries | Show/Hide entries for ASL or Argininosuccinate |
| Comment | ASL, an enzyme of the cytosolic part of the urea cycle, catalyzes the conversion of argininosuccinate to fumarate and arginine. |
|
Formal Description Interaction-ID: 52715 |
|
| Drugbank entries | Show/Hide entries for ASL or Fumarate |
| Comment | ASL, an enzyme of the cytosolic part of the urea cycle, catalyzes the conversion of argininosuccinate to fumarate and arginine. |
|
Formal Description Interaction-ID: 52716 |
|
| Drugbank entries | Show/Hide entries for ASL |
| Comment | OTC, an enzyme of the mitochondrial part of the urea cycle, catalyzes the conversion of ornithine and carbamoylphosphate to citrulline. |
|
Formal Description Interaction-ID: 52717 |
|
| Drugbank entries | Show/Hide entries for OTC |
| Comment | OTC, an enzyme of the mitochondrial part of the urea cycle, catalyzes the conversion of ornithine and carbamoylphosphate to citrulline. |
|
Formal Description Interaction-ID: 52718 |
|
| Drugbank entries | Show/Hide entries for OTC |
| Comment | OTC, an enzyme of the mitochondrial part of the urea cycle, catalyzes the conversion of ornithine and carbamoylphosphate to citrulline. |
|
Formal Description Interaction-ID: 52720 |
|
| Drugbank entries | Show/Hide entries for OTC |
| Comment | CPS1, an enzyme of the mitochondrial part of the urea cycle, catalyzes the conversion of ammonia (NH3) to carbamoylphosphate. |
|
Formal Description Interaction-ID: 52721 |
|
| Drugbank entries | Show/Hide entries for CPS1 |
| Comment | CPS1, an enzyme of the mitochondrial part of the urea cycle, catalyzes the conversion of ammonia (NH3) and bicarbonate (HCO3-) to carbamoylphosphate. |
|
Formal Description Interaction-ID: 52722 |
|
| Drugbank entries | Show/Hide entries for CPS1 |
| Comment | Citrin (SLC25A13, CTLN2) is a liver-type isoform of the mitochondrial aspartate-glutamate carrier SLC25A13. It supplies aspartate to the enzyme ASS1 (CTLN1). |
|
Formal Description Interaction-ID: 53500 |
|
| Comment | ASS1 (CTLN1, argininosuccinate synthase) encodes an enzyme involved in the urea cycle. SLC25A13 (CTLN2) encodes an aspartate/glutamate carrier also involved in the urea cycle. CTLN2 is responsible for the aspartate supply. Citrin (SLC25A13, CTLN2) is a liver-type isoform of the mitochondrial aspartate-glutamate carrier SLC25A13. |
|
Formal Description Interaction-ID: 53501 |
mRNA/protein variant increases_activity of process |
| Comment | Besides acting as aspartate/glutamate carrier, CTLN2 (SLC25A13, citrin, the liver-type isoform) is also part of the malate/aspartate NADH shuttle transferring reducing equivalents from the cytosol to mitochondria. Therefore citrin-deficiency also causes accumulation of NADH in the cytosol. |
|
Formal Description Interaction-ID: 53502 |
|
| Drugbank entries | Show/Hide entries for |
| Comment | Besides acting as aspartate/glutamate carrier, CTLN2 (SLC25A13, citrin, the liver-type isoform) is also part of the malate/aspartate NADH shuttle transferring reducing equivalents from the cytosol to mitochondria. Therefore citrin-deficiency also causes accumulation of NADH in the cytosol. |
|
Formal Description Interaction-ID: 53503 |
|
| Comment | Citrullinemia is an autosomal recessive disorder of the urea cycle. Citrullinemia type 1 (classical type) is caused through mutations in the CTLN1 gene encoding argininosuccinate synthase. Citrullinemia type 2 is caused through mutations in the liver-type isoform of SLC25A13 gene (called citrin) encoding an aspartate/glutamate carrier. SLC25A13 supplies aspartate to ASS1 (CTLN1). |
|
Formal Description Interaction-ID: 54000 |
|
| Comment | CPS1, an enzyme of the mitochondrial part of the urea cycle, catalyzes the conversion of ammonia (NH3) and bicarbonate (HCO3-) to carbamoylphosphate. |
|
Formal Description Interaction-ID: 54381 |
|
| Drugbank entries | Show/Hide entries for CPS1 |