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ABCA1

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. With cholesterol as its substrate, this protein functions as a cholesteral efflux pump in the cellular lipid removal pathway. Mutations in this gene have been associated with Tangier's disease and familial high-density lipoprotein deficiency.
Protein class

Disease related genes, Enzymes, FDA approved drug targets, Human disease related genes, Metabolic proteins, Plasma proteins, Transporters

Predicted location

Intracellular, Membrane (different isoforms)

Single cell type specificity

Cell type enhanced (Hepatocytes, Kupffer cells, Langerhans cells, Alveolar cells type 1)

Immune cell specificity

Group enriched (eosinophil, neutrophil)

Cell line specificity

Cell line enhanced (HSkMC, U-87 MG)

Interaction

Interacts with MEGF10 (PubMed:17205124). May interact with APOE1; functionally associated with APOE1 in the biogenesis of HDLs (PubMed:14754908). Interacts with ABCA8; this interaction potentiates cholesterol efflux (PubMed:28882873). Interacts with ABCA12 and NR1H2; this interaction is required for ABCA1 localization to the cell surface and is necessary for its normal activity and stability (PubMed:23931754).

Molecular function

Translocase

More Types Infomation

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For Research Use Only. Not For Clinical Use.

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