PPP1R16A Summary

Myosin light chain kinase and phosphatase (MLCP) complexes control the phosphorylation states of regulatory myosin light chains, which is crucial for muscle and intracellular movement. MLCPs typically contain a catalytic protein phosphatase 1 (PP1c) subunit, a myosin phosphatase targeting (MYPT) subunit, and another smaller subunit. The protein encoded by this gene represents an MYPT subunit, which is responsible for directing PP1c to its intended targets. However, while other MYPTs result in PP1c activation after becoming phosphorylated, the encoded protein is phosphorylated by protein kinase A and then inhibits the catalytic activity of PP1c. [provided by RefSeq, Jul 2016]

PPP1R16A Details

Gene Symbol : PPP1R16A

Gene Name : Protein phosphatase 1 regulatory subunit 16A

Chromosome : CHR 8: 144,477,986-144,502,120

Locus : 8q24.3

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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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