SLC24A5: Solute Carrier Family 24 Member 5
Key regulator of melanogenesis and pigmentation; associated with skin color variation and oculocutaneous albinism type 6
Gene Information Card
| Symbol | SLC24A5 |
|---|---|
| Full Name | Solute Carrier Family 24 Member 5 |
| Gene Type | Protein coding |
| Chromosomal Location | 15q21.1 |
| NCBI Gene ID | 283652 ncbi.nlm.nih.gov/gene/283652 |
| Ensembl ID | ENSG00000137868 |
| UniProt ID | Q71RS6 |
| OMIM ID | 609802 |
| HGNC ID | 20611 |
| Aliases | NCKX5, JSX, SHEP4 |
Description
SLC24A5 encodes a member of the potassium-dependent sodium/calcium exchanger family. The protein, NCKX5, is localized to the melanosome membrane and plays a critical role in melanogenesis by regulating calcium ion homeostasis. A common polymorphism (rs1426654, Ala111Thr) is a major determinant of skin pigmentation in humans. Loss-of-function mutations cause oculocutaneous albinism type 6 (OCA6).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Oculocutaneous albinism type 6 (OCA6) | Loss-of-function mutations in SLC24A5 disrupt melanosomal calcium transport, impairing melanin synthesis. | ClinVar, OMIM |
| Skin pigmentation variation (normal trait) | The Ala111Thr variant (rs1426654) alters NCKX5 activity, contributing to lighter skin in European populations. | NCBI, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skin | 12.5 | Medium |
| Eye | 8.3 | Medium |
| Brain | 2.1 | Low |
| Testis | 1.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Melanocytes | 15.2 | High expression |
| HEK293 | 0.5 | Low expression |
| A375 (melanoma) | 10.8 | High expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.110G>A (p.Ala111Thr) | SNV | High (derived allele frequency ~0.99 in Europeans) | Reduced calcium transport; lighter skin pigmentation |
| c.928C>T (p.Arg310*) | Nonsense | Rare | Loss of function; causes OCA6 |
| c.1516C>T (p.Arg506*) | Nonsense | Rare | Loss of function; causes OCA6 |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations (e.g., p.Arg310*, p.Arg506*) result in truncated, non-functional NCKX5 protein, leading to OCA6.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Melanogenesis (Reactome: R-HSA-5668599)
• Ion transport by P-type ATPases (Reactome: R-HSA-936837)
Protein Summary
NCKX5 is a 43 kDa transmembrane protein with 11 transmembrane domains. It functions as a potassium-dependent sodium/calcium exchanger, importing calcium into melanosomes in exchange for sodium. This calcium influx is essential for proper melanin synthesis. The protein is predominantly expressed in melanocytes and retinal pigment epithelium.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLC24A5 Knockout HEK293 Cell Line | EDJ-KQ14515 | Human | 283652 | Details Get a Quote |
| SLC24A5 Knockout HeLa Cell Line | EDJ-KQ59406 | Human | 283652 | Details Get a Quote |
| SLC24A5 Knockout A-549 Cell Line | EDJ-KQ67874 | Human | 283652 | Details Get a Quote |
| SLC24A5 Knockout HCT 116 Cell Line | EDJ-KQ76253 | Human | 283652 | Details Get a Quote |
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