Entity Details

Primary name SLC45A2
Entity type gene
Source Source Link

Details

PrimaryID51151
RefseqGeneNG_011691
SymbolSLC45A2
Namesolute carrier family 45 member 2
Chromosome5
Location5p13.2
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2000-05-08
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsS45A2_HUMAN

GO terms

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GOName
GO:0007601 visual perception
GO:0008506 sucrose:proton symporter activity
GO:0015770 sucrose transport
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0033162 melanosome membrane
GO:0042438 melanin biosynthetic process
GO:0048066 developmental pigmentation
GO:0050896 response to stimulus

Diseases

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Disease IDSourceNameDescription
606574 OMIMAlbinism, oculocutaneous, 4 (OCA4)A disorder of pigmentation characterized by reduced biosynthesis of melanin in the skin, hair and eyes. Patients show reduced or lacking pigmentation associated with classic albinism ocular abnormalities, including decreased visual acuity, macular hypoplasia, optic dysplasia, atypical choroidal vessels, and nystagmus. The disease is caused by variants affecting the gene represented in this entry.