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SLC24A5

Chr 15q21.1

solute carrier family 24 member 5

Aliases:
JSX, OCA6, NCKX5
MANE:
ENST00000341459.8
OMIM: 609802 ↗NCBI: 283652 ↗Ensembl ↗

Annotations refreshed 10 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Albinism or congenital nystagmus

    BIALLELIC, autosomal or pseudoautosomal

  • Infantile nystagmus

    BIALLELIC, autosomal or pseudoautosomal

  • Ocular and oculo-cutaneous albinism

    BIALLELIC, autosomal or pseudoautosomal

  • Pigmentary skin disorders

    BIALLELIC, autosomal or pseudoautosomal

  • Glaucoma (developmental)

  • Retinal disorders

  • Structural eye disease

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • oculocutaneous albinism type 6

    0.75

  • oculocutaneous albinism

    0.68

  • benign neoplasm of eye

    0.50

  • skin neoplasm

    0.48

  • skin cancer

    0.48

  • actinic keratosis

    0.48

  • skin disorder

    0.46

  • cutaneous melanoma

    0.45

  • basal cell carcinoma

    0.45

  • glaucoma

    0.44

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Sodium/potassium/calcium exchanger 5

Calcium, potassium:sodium antiporter that transports 1 Ca(2+) and 1 K(+) to the melanosome in exchange for 4 cytoplasmic Na(+) (PubMed:18166528). Involved in pigmentation, possibly by participating in ion transport in melanosomes (PubMed:16357253, PubMed:18166528). Predominant sodium-calcium exchanger in melanocytes (PubMed:16357253, PubMed:18166528)

Diseases associated with SLC24A5

Curated MONDO disease pages that list SLC24A5 among their top associated genes.

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.