CHST14 wt Allele

Preferred Label : CHST14 wt Allele;

NCIt synonyms : HNK1ST; Dermatan 4 Sulfotransferase 1 Gene; Carbohydrate Sulfotransferase 14 wt Allele; D4ST1; ATCS; EDSMC1; Carbohydrate (N-Acetylgalactosamine 4-0) Sulfotransferase 14 Gene; Carbohydrate (Dermatan 4) Sulfotransferase 14 Gene;

NCIt definition : Human CHST14 wild-type allele is located in the vicinity of 15q15.1 and is approximately 2 kb in length. This allele, which encodes carbohydrate sulfotransferase 14 protein, plays a role in the sulfation of dermatan to form dermatan sulfate. Mutation of the gene is associated with Ehlers-Danlos syndrome musculocontractural type 1 (adducted thumb-clubfoot syndrome).;

NCI Metathesaurus CUI : CL1905795;

GenBank Accession Number : AF401222;

Details

Origin ID

C198632;

OMIM relation
- Carbohydrate sulfotransferase 14 [OMIM gene]
gene_found_in_organism
- Human [NCIt concept]
gene_is_element_in_pathway
- Glycosaminoglycan Biosynthesis Pathway - Chondroitin Sulfate [NCIt concept]
gene_plays_role_in_process
- Biosynthetic Process [NCIt concept]
- Carbohydrate Metabolic Process [NCIt concept]
- Protein Metabolism Process [NCIt concept]

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