Contents

ABCA3

Protein-coding gene in humans

ABCA3
Identifiers
Aliases	ABCA3, ATP-binding cassette, sub-family A (ABC1), member 3, ABC-C, ABC3, EST111653, LBM180, SMDP3, ATP binding cassette subfamily A member 3
External IDs	OMIM: 601615; MGI: 1351617; HomoloGene: 37437; GeneCards: ABCA3; OMA:ABCA3 - orthologs
Gene location (Human) Chr. Chromosome 16 (human)[1] Band 16p13.3 Start 2,275,881 bp[1] End 2,340,746 bp[1]
Gene location (Mouse) Chr. Chromosome 17 (mouse)[2] Band 17|17 A3.3 Start 24,570,924 bp[2] End 24,629,175 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in lower lobe of lung upper lobe of lung upper lobe of left lung right hemisphere of cerebellum frontal pole paraflocculus of cerebellum tendon of biceps brachii prefrontal cortex right frontal lobe inferior olivary nucleus Top expressed in left lung lobe right lung right lung lobe human kidney vestibular membrane of cochlear duct transitional epithelium of urinary bladder right kidney Rostral migratory stream facial motor nucleus trigeminal ganglion More reference expression data BioGPS More reference expression data
Gene ontology Molecular function ATPase-coupled transmembrane transporter activity nucleotide binding ATPase activity ATP binding transporter activity lipid transporter activity Cellular component lamellar body membrane integral component of membrane plasma membrane membrane alveolar lamellar body membrane alveolar lamellar body extracellular space intracellular membrane-bounded organelle Biological process lipid transport response to glucocorticoid transmembrane transport transport Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 21 27410 Ensembl ENSG00000167972 ENSMUSG00000024130 UniProt Q99758 Q8R420 RefSeq (mRNA) NM_001089 NM_001039581 NM_013855 RefSeq (protein) NP_001080 NP_001034670 NP_038883 Location (UCSC) Chr 16: 2.28 – 2.34 Mb Chr 17: 24.57 – 24.63 Mb PubMed search [3] [4]
Wikidata
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ATP-binding cassette sub-family A member 3 is a protein that in humans is encoded by the ABCA3 gene.^[5][6]

The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. The full transporter encoded by this gene may be involved in development of resistance to xenobiotics and engulfment during programmed cell death.^[6]

Clinical significance[edit]

Mutations in ABCA3 are associated to cataract-microcornea syndrome.^[7]

It is associated with Surfactant metabolism dysfunction type 3.

See also[edit]

• ATP-binding cassette transporter

References[edit]

Further reading[edit]

External links[edit]

• ABCA3+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)
• ABCA3 human gene location in the UCSC Genome Browser.
• ABCA3 human gene details in the UCSC Genome Browser.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

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