Statements (23)
Predicate | Object |
---|---|
gptkbp:instanceOf |
gptkb:gene
|
gptkbp:alsoKnownAs |
gptkb:MATP
gptkb:solute_carrier_family_45_member_2 |
gptkbp:associatedWith |
gptkb:oculocutaneous_albinism_type_4
skin pigmentation |
gptkbp:encodes |
gptkb:SLC45A2_protein
|
gptkbp:Entrez_Gene_ID |
51151
|
gptkbp:expressedIn |
gptkb:melanocytes
|
gptkbp:function |
involved in melanin synthesis
transports molecules across melanosomal membrane |
gptkbp:geneType |
protein-coding
|
gptkbp:HGNC_ID |
gptkb:HGNC:21755
|
https://www.w3.org/2000/01/rdf-schema#label |
SLC45A2
|
gptkbp:locatedOnChromosome |
gptkb:chromosome_5
5p13.2 |
gptkbp:mutationAssociatedWith |
albinism
|
gptkbp:OMIM |
606202
|
gptkbp:orthologInMouse |
gptkb:Slc45a2
|
gptkbp:orthologInZebrafish |
slc45a2
|
gptkbp:species |
gptkb:Homo_sapiens
|
gptkbp:UniProtID |
gptkb:Q9UMX9
|
gptkbp:bfsParent |
gptkb:chromosome_9
|
gptkbp:bfsLayer |
6
|