General Information:

Id: 7,778
Diseases: Metabolic
Homo sapiens
article
Reference: Janecke AR et al.(2016) The phenotype of the musculocontractural type of Ehlers-Danlos syndrome due to CHST14 mutations Am. J. Med. Genet. A 170A: 103-115 [PMID: 26373698]

Interaction Information:

Comment Ehlers-Danlos syndrome is caused by bi-allelic mutations in the genes CHST14 and DSE encoding two enzymes necessary for dermatan sulfate biosynthesis.
Formal Description
Interaction-ID: 77716

gene/protein

DSE

affects_activity of

disease

Ehlers-Danlos syndrome, musculocontractural type 2

Comment Ehlers-Danlos syndrome is caused by bi-allelic mutations in the genes CHST14 and DSE encoding two enzymes necessary for dermatan sulfate biosynthesis.
Formal Description
Interaction-ID: 77717

gene/protein

DSE

increases_quantity of

drug/chemical compound

Dermatan sulfate

Comment Ehlers-Danlos syndrome is caused by bi-allelic mutations in the genes CHST14 and DSE encoding two enzymes necessary for dermatan sulfate biosynthesis.
Formal Description
Interaction-ID: 77718

gene/protein

DSE

decreases_quantity of

drug/chemical compound

Chondroitin sulfate

Comment Chondroitin sulfate/dermatan sulfate proteoglycans are found in the extracellular matrix of the connective tissues.
Formal Description
Interaction-ID: 77719

gene/protein

DSE

affects_activity of

tissue/cell line

connective tissue

Comment DSE is necessary for the biosynthesis of dermatan sulfate. Chondroitin sulfate/dermatan sulfate proteoglycans are found in the extracellular matrix of the connective tissues.
Formal Description
Interaction-ID: 79344

gene/protein

DSE

affects_activity of

cellular component

extracellular matrix

via synthesis of dermatan sulfate