ABCA3

Full Name:

ATP-binding cassette, sub-family A (ABC1), member 3 [Homo sapiens]

Symbol:

ABCA3

Other Symbols:

ABC-C, ABC3, EST111653, LBM180, MGC166979, MGC72201, SMDP3

Other Names:

ABC transporter 3; ATP-binding cassette, sub-family A member 3

Chromosome Location:

16p13.3

Map Viewer

Gene ID:

21

OMIM ID:

601615

OMIM

Family            :

ATP-binding cassette, sub-family A

Classification:

3.A.1.211.5

Sequences:

Nucleotide

Protein

Functions:

Development of resistance to xenobiotics, engulfment during programmed cell death

Polymorphisms/Variants/SNPs/Pharmacogenomics:

SNP

SNP VarView

GeneView in dbSNP

Pathways and Cellular Interactions:

ATPase activity induced by lipids, involved in the biogenesis of lamellar body-like structures. (http://www.ncbi.nlm.nih.gov/pubmed/15465012)

Tissue Distribution:

Brain, heart, lung, pancreas

Relevant Diseases:

- Newborn respiratory distress syndrome (http://www.ncbi.nlm.nih.gov/pubmed/19252731)

- Acute myeloid leukemia (http://www.ncbi.nlm.nih.gov/pubmed/18463677)

- Infants with desquamative interstitial pneumonitis (http://www.ncbi.nlm.nih.gov/pubmed/17660803)

- Fatal surfactant deficiency (http://www.ncbi.nlm.nih.gov/pubmed/16959783)

Drugs:

Drug resistance in childhood acute myeloid leukemia (http://www.ncbi.nlm.nih.gov/pubmed/16857811)