SLC45A2 solute carrier family 45 member 2
Gene ID: 51151, updated on 14-Nov-2024Gene type: protein coding
Also known as: 1A1; AIM1; MATP; OCA4; SHEP5
- See all available tests in GTR for this gene
- Go to complete Gene record for SLC45A2
- Go to Variation Viewer for SLC45A2 variants
Summary
This gene encodes a transporter protein that mediates melanin synthesis. The protein is expressed in a high percentage of melanoma cell lines. Mutations in this gene are a cause of oculocutaneous albinism type 4, and polymorphisms in this gene are associated with variations in skin and hair color. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A genome-wide association study identifies novel alleles associated with hair color and skin pigmentation. GeneReviews: Not available | |
| A genomewide association study of skin pigmentation in a South Asian population. GeneReviews: Not available | |
| Genome-wide association study identifies three new melanoma susceptibility loci. GeneReviews: Not available | |
| Genome-wide association study of tanning phenotype in a population of European ancestry. GeneReviews: Not available | |
| Oculocutaneous albinism type 4 MedGen: C1847836OMIM: 606574GeneReviews: Oculocutaneous Albinism Type 4, Oculocutaneous Albinism and Ocular Albinism Overview | not available |
| SKIN/HAIR/EYE PIGMENTATION 5, BLACK/NONBLACK HAIR | not available |
| Web-based, participant-driven studies yield novel genetic associations for common traits. GeneReviews: Not available |
Genomic context
- Location:
- 5p13.2
- Sequence:
- Chromosome: 5; NC_000005.10 (33944623..33984693, complement)
- Total number of exons:
- 8
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for SLC45A2 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- Albinism Database Mutations of the Membrane Associated Transporter Protein (MATP) Gene (aka SLC45A2)
- 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
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