XYLT1 wt Allele

Preferred Label : XYLT1 wt Allele;

NCIt synonyms : XTI; XT1; Xylosyltransferase 1 wt Allele; Beta-D-Xylosyltransferase 1 Gene; PXYLT1; XT-I; XYLTI; Protein Xylosyltransferase 1 Gene; DBQD2; xylT-I; Xylosyltransferase Iota Gene;

NCIt definition : Human XYLT1 wild-type allele is located in the vicinity of 16p12.3 and is approximately 369 kb in length. This allele, which encodes xylosyltransferase 1 protein, plays a role in the synthesis of chondroitin sulfate and dermatan sulfate proteoglycans and skeletal development. Mutations in the gene are associated with pseudoxanthoma elasticum and Desbuquois dysplasia 2.;

GenBank Accession Number : AJ277441;

Details

Origin ID

C213619;

OMIM relation
- Xylosyltransferase 1 [OMIM gene]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 16p12.3 [NCIt concept]
gene_is_element_in_pathway
- Glycosaminoglycan Biosynthesis Pathway - Chondroitin Sulfate [NCIt concept]
- Glycosaminoglycan Biosynthesis Pathway - Heparan Sulfate [NCIt concept]
gene_plays_role_in_process
- Glycosylation [NCIt concept]
- Heparan Sulfate Biosynthesis [NCIt concept]
- Protein Glycosylation [NCIt concept]
- Skeletal Development [NCIt concept]

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