ABCA5

Cholesterol transporter ABCA5 is a protein that in humans is encoded by the ABCA5 gene.^[5]

ABCA5
Identifiers
Aliases	ABCA5, ABC13, EST90625, ATP binding cassette subfamily A member 5, HTC3
External IDs	OMIM: 612503; MGI: 2386607; HomoloGene: 10263; GeneCards: ABCA5; OMA:ABCA5 - orthologs
Gene location (Human) Chr. Chromosome 17 (human)[1] Band 17q24.3 Start 69,244,311 bp[1] End 69,327,244 bp[1]
Gene location (Mouse) Chr. Chromosome 11 (mouse)[2] Band 11|11 E1 Start 110,160,195 bp[2] End 110,228,542 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in body of pancreas Achilles tendon gastrocnemius muscle cerebellar hemisphere bronchial epithelial cell right hemisphere of cerebellum skin of thigh right lobe of liver jejunal mucosa skin of abdomen Top expressed in otolith organ utricle facial motor nucleus olfactory epithelium substantia nigra seminal vesicula pontine nuclei spermatocyte medial vestibular nucleus Epithelium of choroid plexus More reference expression data BioGPS n/a
Gene ontology Molecular function nucleotide binding ATPase activity ATP binding lipid transporter activity ATPase-coupled transmembrane transporter activity Cellular component integral component of membrane endosome late endosome Golgi apparatus intracellular membrane-bounded organelle late endosome membrane membrane Golgi membrane lysosome lysosomal membrane Biological process lipid transport high-density lipoprotein particle remodeling cholesterol efflux negative regulation of macrophage derived foam cell differentiation reverse cholesterol transport cholesterol transport transmembrane transport Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 23461 217265 Ensembl ENSG00000154265 ENSMUSG00000018800 UniProt Q8WWZ7 Q8K448 RefSeq (mRNA) NM_172232 NM_018672 NM_147219 RefSeq (protein) NP_061142 NP_758424 NP_671752 Location (UCSC) Chr 17: 69.24 – 69.33 Mb Chr 11: 110.16 – 110.23 Mb PubMed search [3] [4]
Wikidata
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Function

The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecule across extra- and intracellular membranes. This encoded protein is a member of the ABCA subfamily. Members of the ABCA subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. This gene is clustered among 4 other ABCA family members on 17q24. Alternative splicing of this gene results in several transcript variants; however, not all variants have been fully described. [provided by RefSeq, Jul 2008].

Clinical significance

Mutations in ABCA5 cause excessive hair overgrowth.^[6]