AlphaFold predicted structure
SLC24A1 · O60721
Mean pLDDT
54.8/ 100
Low
1,099 residues
Confidence breakdown
- Very high(≥ 90)16%
- Confident(70–90)20%
- Low(50–70)7%
- Very low(< 50)58%
Open interactive 3D viewer
AlphaFold (Jumper et al., 2021) · CC BY 4.0
SLC24A1
Chr 15q22.31solute carrier family 24 member 1
- Aliases:
- NCKX1, NCKX, RODX, KIAA0702, HsT17412
- MANE:
- ENST00000261892.11
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Retinal disorders
BIALLELIC, autosomal or pseudoautosomalGlaucoma (developmental)
Structural eye disease
BIALLELIC, autosomal or pseudoautosomalDDG2P
BIALLELIC, autosomal or pseudoautosomal
Disease associations (Open Targets)
congenital stationary night blindness
0.69Retinal dystrophy
0.51retinitis pigmentosa
0.44inherited retinal dystrophy
0.37Moyamoya disease
0.26neurodegenerative disease
0.25ovarian dysfunction
0.24hereditary disease
0.19Alzheimer disease
0.12optic atrophy
0.11
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Sodium/potassium/calcium exchanger 1
Calcium, potassium:sodium antiporter that transports 1 Ca(2+) and 1 K(+) in exchange for 4 Na(+) (PubMed:26631410). Critical component of the visual transduction cascade, controlling the calcium concentration of outer segments during light and darkness (PubMed:20850105). Light causes a rapid lowering of cytosolic free calcium in the outer segment of both retinal rod and cone photoreceptors and the light-induced lowering of calcium is caused by extrusion via this protein which plays a key role in the process of light adaptation (PubMed:20850105)
Diseases associated with SLC24A1
Curated MONDO disease pages that list SLC24A1 among their top associated genes.