ABCA3

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ATP-binding cassette, sub-family A (ABC1), member 3
Identifiers
Symbols ABCA3 ; ABC-C; ABC3; EST111653; LBM180; SMDP3
External IDs OMIM601615 MGI1351617 HomoloGene37437 GeneCards: ABCA3 Gene
RNA expression pattern
PBB GE ABCA3 204343 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 21 27410
Ensembl ENSG00000167972 ENSMUSG00000024130
UniProt Q99758 Q8R420
RefSeq (mRNA) NM_001089 NM_001039581
RefSeq (protein) NP_001080 NP_001034670
Location (UCSC) Chr 16:
2.33 – 2.39 Mb
Chr 17:
24.35 – 24.41 Mb
PubMed search [1] [2]

ATP-binding cassette sub-family A member 3 is a protein that in humans is encoded by the ABCA3 gene.[1][2]

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.[2]


Clinical significance[edit]

Mutations in ABCA3 are associated to cataract-microcornea syndrome .[3]

It is associated with Surfactant metabolism dysfunction type 3.


See also[edit]

References[edit]

  1. ^ Klugbauer N, Hofmann F (Sep 1996). "Primary structure of a novel ABC transporter with a chromosomal localization on the band encoding the multidrug resistance-associated protein". FEBS Lett 391 (1–2): 61–5. doi:10.1016/0014-5793(96)00700-4. PMID 8706931. 
  2. ^ a b "Entrez Gene: ABCA3 ATP-binding cassette, sub-family A (ABC1), member 3". 
  3. ^ Chen, P; Dai, Y; Wu, X; Wang, Y; Sun, S; Xiao, J; Zhang, Q; Guan, L; Zhao, X; Hao, X; Wu, R; Xie, L (2014). "Mutations in the ABCA3 gene are associated with cataract-microcornea syndrome". Investigative Ophthalmology & Visual Science. doi:10.1167/iovs.14-14098. PMID 25406294.  edit

Further reading[edit]

External links[edit]

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