GALNT17 polypeptide N-acetylgalactosaminyltransferase 17
Gene ID: 64409, updated on 2-Nov-2024Gene type: protein coding
Also known as: GALNT16; GALNT20; GALNTL3; WBSCR17; GALNACT17; GalNAc-T17; GalNAc-T19; GalNAc-T5L
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- Go to complete Gene record for GALNT17
- Go to Variation Viewer for GALNT17 variants
Summary
This gene encodes an N-acetylgalactosaminyltransferase. This gene is located centromeric to the common deleted region in Williams-Beuren syndrome (WBS), a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23. This protein may play a role in membrane trafficking. [provided by RefSeq, Jan 2013]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Common genetic variation and antidepressant efficacy in major depressive disorder: a meta-analysis of three genome-wide pharmacogenetic studies. GeneReviews: Not available | |
| Genome-wide association analysis demonstrates the highly polygenic character of age-related hearing impairment. GeneReviews: Not available | |
| Genomic association analysis identifies multiple loci influencing antihypertensive response to an angiotensin II receptor blocker. GeneReviews: Not available |
Genomic context
- Location:
- 7q11.22
- Sequence:
- Chromosome: 7; NC_000007.14 (71132144..71713599)
- Total number of exons:
- 14
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for GALNT17 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- Variation ViewerRelated Variants
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