AKAP7 Summary

This gene encodes a member of the A-kinase anchoring protein (AKAP) family, a group of functionally related proteins that bind to a regulatory subunit (RII) of cAMP-dependent protein kinase A (PKA) and target the enzyme to specific subcellular compartments. AKAPs have a common RII-binding domain, but contain different targeting motifs responsible for directing PKA to distinct intracellular locations. Three alternatively spliced transcript variants encoding different isoforms have been described.[provided by RefSeq, Apr 2011]

AKAP7 Details

Gene Symbol : AKAP7

Gene Name : A-kinase anchoring protein 7

Chromosome : CHR 6: 131,125,697-131,283,534

Locus : 6q23.2

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VPS13B Summary

This gene encodes a potential transmembrane protein that may function in vesicle-mediated transport and sorting of proteins within the cell. This protein may play a role in the development and the function of the eye, hematological system, and central nervous system. Mutations in this gene have been associated with Cohen syndrome. Multiple splice variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]

VPS13B Details

Gene Symbol : VPS13B

Gene Name : Vacuolar protein sorting 13 homolog B

Chromosome : CHR 8: 990,070,13-998,775,85

Locus : 8q22.2

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