Slc24a5

GPTKB entity

Statements (23)
Predicate Object
gptkbp:instanceOf gptkb:gene
gptkbp:alternativeName gptkb:NCKX5
gptkbp:associatedWith skin pigmentation
gptkbp:discoveredBy gptkb:Keith_Cheng
gptkbp:encodes solute carrier family 24 member 5 protein
gptkbp:Entrez_Gene_ID 283652
gptkbp:expressedIn gptkb:melanocytes
gptkbp:foundIn vertebrates
gptkbp:function potassium-dependent sodium/calcium exchanger
gptkbp:HGNC_ID HGNC:30767
https://www.w3.org/2000/01/rdf-schema#label Slc24a5
gptkbp:involvedIn melanin biosynthetic process
gptkbp:locatedOnChromosome chromosome 15 in humans
gptkbp:mutationAssociatedWith A111T
high in European populations
lighter skin color in Europeans
low in African and East Asian populations
gptkbp:OMIM 609802
gptkbp:orthologInMouse gptkb:Slc24a5
gptkbp:species gptkb:Homo_sapiens
gptkbp:UniProtID gptkb:Q6TCH7
gptkbp:bfsParent gptkb:SLC24A5
gptkbp:bfsLayer 8