MYBPC1 Summary

This gene encodes a member of the myosin-binding protein C family. Myosin-binding protein C family members are myosin-associated proteins found in the cross-bridge-bearing zone (C region) of A bands in striated muscle. The encoded protein is the slow skeletal muscle isoform of myosin-binding protein C and plays an important role in muscle contraction by recruiting muscle-type creatine kinase to myosin filaments. Mutations in this gene are associated with distal arthrogryposis type I. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]

MYBPC1 Details

Gene Symbol : MYBPC1

Gene Name : Myosin binding protein C, slow type

Chromosome : CHR 12: 101,594,848-101,695,840

Locus : 12q23.2

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TMEM59 Summary

This gene encodes a protein shown to regulate autophagy in response to bacterial infection. This protein may also regulate the retention of amyloid precursor protein (APP) in the Golgi apparatus through its control of APP glycosylation. Overexpression of this protein has been found to promote apoptosis in a glioma cell line. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2015]

TMEM59 Details

Gene Symbol : TMEM59

Gene Name : Transmembrane protein 59

Chromosome : CHR 1: 540,535,72-540,266,80

Locus : 1p32.3

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