SLC24A4 solute carrier family 24 member 4
Gene ID: 123041, updated on 11-Apr-2024Gene type: protein coding
Also known as: AI2A5; NCKX4; SHEP6; SLC24A2
- See all available tests in GTR for this gene
- Go to complete Gene record for SLC24A4
- Go to Variation Viewer for SLC24A4 variants
Summary
This gene encodes a sodium/potassium/calcium exchange protein. The encoded antiporter transports one calcium and one potassium ion in exchange for four sodium ions and has been implicated in amelogenesis and enamel maturation. Certain variants in this gene have been associated with skin, hair, and eye pigmentation, while other variants have been identified in people with hypomaturation-type amelogenesis imperfecta. [provided by RefSeq, Nov 2023]
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 | |
| Amelogenesis imperfecta hypomaturation type 2A5 | See labs |
| Genetic determinants of hair, eye and skin pigmentation in Europeans. GeneReviews: Not available | |
| Genome-wide association scan for survival on dialysis in African-Americans with type 2 diabetes. GeneReviews: Not available | |
| Genome-wide association studies identify several new loci associated with pigmentation traits and skin cancer risk in European Americans. GeneReviews: Not available | |
| Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease. GeneReviews: Not available | |
| SKIN/HAIR/EYE PIGMENTATION 6, BLOND/BROWN HAIR | See labs |
| Web-based, participant-driven studies yield novel genetic associations for common traits. GeneReviews: Not available |
Genomic context
- Location:
- 14q32.12
- Sequence:
- Chromosome: 14; NC_000014.9 (92322581..92501481)
- Total number of exons:
- 22
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for SLC24A4 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
- SLC24A4 database
- Variation ViewerRelated Variants
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