Gene: ABCA7

Alternate names for this Gene: ABCA-SSN|ABCX|AD9

Gene Summary: The 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 intra-cellular 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. This full transporter has been detected predominantly in myelo-lymphatic tissues with the highest expression in peripheral leukocytes, thymus, spleen, and bone marrow. The function of this protein is not yet known; however, the expression pattern suggests a role in lipid homeostasis in cells of the immune system.

Gene is located in Chromosome: 19

Location in Chromosome : 19p13.3

Description of this Gene: ATP binding cassette subfamily A member 7

Type of Gene: protein-coding

Gene: CNN2

Alternate names for this Gene: -

Gene Summary: The protein encoded by this gene, which can bind actin, calmodulin, troponin C, and tropomyosin, may function in the structural organization of actin filaments. The encoded protein could play a role in smooth muscle contraction and cell adhesion. Several pseudogenes of this gene have been identified, and are present on chromosomes 1, 2, 3, 6, 9, 11, 13, 15, 16, 21 and 22. Alternative splicing results in multiple transcript variants encoding different isoforms.

Gene is located in Chromosome: 19

Location in Chromosome : 19p13.3

Description of this Gene: calponin 2

Type of Gene: protein-coding