XYLT1 xylosyltransferase 1
Gene ID: 64131, updated on 2-Nov-2024Gene type: protein coding
Also known as: XT1; XTI; XT-I; DBQD2; XYLTI; PXYLT1; xylT-I
- See all available tests in GTR for this gene
- Go to complete Gene record for XYLT1
- Go to Variation Viewer for XYLT1 variants
Summary
This locus encodes a xylosyltransferase enzyme. The encoded protein catalyzes transfer of UDP-xylose to serine residues of an acceptor protein substrate. This transfer reaction is necessary for biosynthesis of glycosaminoglycan chains. Mutations in this gene have been associated with increased severity of pseudoxanthoma elasticum.[provided by RefSeq, Nov 2009]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Autosomal recessive inherited pseudoxanthoma elasticum | See labs |
| Desbuquois dysplasia 2 | See labs |
| Identification of a candidate gene for astigmatism. GeneReviews: Not available |
Genomic context
- Location:
- 16p12.3
- Sequence:
- Chromosome: 16; NC_000016.10 (17101769..17470960, complement)
- Total number of exons:
- 13
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for XYLT1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
- XYLT1 database
IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.