SLC29A3 solute carrier family 29 member 3
Gene ID: 55315, updated on 2-Nov-2024Gene type: protein coding
Also known as: ENT3; HJCD; PHID; HCLAP
- See all available tests in GTR for this gene
- Go to complete Gene record for SLC29A3
- Go to Variation Viewer for SLC29A3 variants
Summary
This gene encodes a nucleoside transporter. The encoded protein plays a role in cellular uptake of nucleosides, nucleobases, and their related analogs. Mutations in this gene have been associated with H syndrome, which is characterized by cutaneous hyperpigmentation and hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism. A related disorder, PHID (pigmented hypertrichosis with insulin-dependent diabetes mellitus), has also been associated with mutations at this locus. Alternatively spliced transcript variants have been described.[provided by RefSeq, Mar 2010]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Association analyses identify three susceptibility Loci for vitiligo in the Chinese Han population. GeneReviews: Not available | |
| H syndrome | See labs |
| Meta-analysis followed by replication identifies loci in or near CDKN1B, TET3, CD80, DRAM1, and ARID5B as associated with systemic lupus erythematosus in Asians. GeneReviews: Not available | |
| Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. GeneReviews: Not available |
Genomic context
- Location:
- 10q22.1
- Sequence:
- Chromosome: 10; NC_000010.11 (71319259..71381423)
- Total number of exons:
- 9
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for SLC29A3 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
- SLC29A3 @ LOVD
- Variation ViewerRelated Variants
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