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Actin-binding protein. Plays a role in the activation of T-cells in response to costimulation through TCR/CD3 and CD2 or CD28. Modulates the cell surface expression of IL2RA/CD25 and CD69.$nTissue specificity;Detected in intestinal microvilli, hair cell stereocilia, and fibroblast filopodia, in spleen and other lymph node-containing organs. Expressed in peripheral blood T lymphocytes, neutrophils, monocytes, B lymphocytes, and myeloid cells.

ACADVL (acyl-Coenzyme A dehydrogenase, very long chain) catalyzes the first step of the mitochondrial fatty acid beta-oxidation pathway. It is specific to esters of long-chain and very long chain fatty acids such as palmitoyl-CoA and stearoyl-CoA. Deficiencies in ACADVL are associated with reduced myocardial fatty acid beta-oxidation and cardiomyopathy.

This gene encodes a clathrin assembly protein, which recruits clathrin and adaptor protein complex 2 (AP2) to cell membranes at sites of coated-pit formation and clathrin-vesicle assembly. The protein may be required to determine the amount of membrane to be recycled, possibly by regulating the size of the clathrin cage. The protein is involved in AP2-dependent clathrin-mediated endocytosis at the neuromuscular junction. A chromosomal translocation t(10;11)(p13;q14) leading to the fusion of t

VAPA is a type IV membrane protein, present in the plasma membrane, intracellular vesicles and may also be associated with the cytoskeleton. This protein may function in vesicle trafficking, membrane fusion, protein complex assembly and cell motility. Two transcript variants encoding distinct isoforms have been identified.

ERP27 is a noncatalytic member of the protein disulfide isomerase (PDI; see MIM 608012) family of endoplasmic reticulum (ER) proteins (Alanen et al., 2006 [PubMed 16940051]).[supplied by OMIM, Mar 2008]