ABCA2

Full Name:

ATP-binding cassette, sub-family A (ABC1), member 2 [Homo sapiens]

Symbol:

ABCA2

Other Symbols:

RP11-229P13.8, ABC2, MGC129761

Other Names:

ATP-binding cassette, sub-family A, member 2

Chromosome Location:

9q34

Map Viewer

Gene ID:

20

OMIM ID:

600047

OMIM

Family            :

ATP-binding cassette, sub-family A

Classification:

3.A.1.211.3

Sequences:

Nucleotide

Protein

Functions:

Macrophage lipid metabolism, neural development

Polymorphisms/Variants/SNPs/Pharmacogenomics:

SNP

SNP VarView

Pathways and Cellular Interactions:

Neural transmembrane lipid export. (http://www.ncbi.nlm.nih.gov/pubmed/12363033)

Tissue Distribution:

Brain, liver, kidney, macrophages, oligodendrocytes

Relevant Diseases:

Mutations and polymorphisms have been [...]

ABCA1 Transporter: Disease Association: Alzheimer’s Disease (AD)

ABCA1 Transporter: Disease Association:

Alzheimer’s Disease (AD):

- Overexpression of hydroxy-methylglutaryl-coenzyme A reductase (HMGCR) and underexpression of ABCA1 may cause increased cholesterol accumulation, Abeta production, and higher AD risk. Those with both the HMGCR (5′-UTR) GG genotype and the ABCA1 (-14) TT genotype, or the ABCA1 (-477) TT genotype may have a higher risk of having AD [...]

ABCA1 Transporter - Pathways and Cellular Interactions

ABCA1 Transporter – Pathways and Cellular Interactions

ABCA1 is involved in cellular lipid removal pathways.

Alzheimer’s disease:

Interaction between HMGCR and ABCA1 cholesterol-related genes modulates Alzheimer’s disease risk. Rodríguez-Rodríguez E, Mateo I, Infante J, Llorca J, García-Gorostiaga I, Vázquez-Higuera JL, Sánchez-Juan P, Berciano J, Combarros O. Brain Res. 2009 Jul 14;1280:166-71. Epub 2009 May 14. PMID: 19446537

Apolipoprotein:

The [...]

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