CHD4 Summary

The product of this gene belongs to the SNF2/RAD54 helicase family. It represents the main component of the nucleosome remodeling and deacetylase complex and plays an important role in epigenetic transcriptional repression. Patients with dermatomyositis develop antibodies against this protein. Somatic mutations in this gene are associated with serous endometrial tumors. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2014]

CHD4 Details

Gene Symbol : CHD4

Gene Name : Chromodomain helicase DNA binding protein 4

Chromosome : CHR 12: 660,743,8-657,008,1

Locus : 12p13.31

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VAMP1 Summary

Synapotobrevins, syntaxins, and the synaptosomal-associated protein SNAP25 are the main components of a protein complex involved in the docking and/or fusion of synaptic vesicles with the presynaptic membrane. The protein encoded by this gene is a member of the vesicle-associated membrane protein (VAMP)/synaptobrevin family. Mutations in this gene are associated with autosomal dominant spastic ataxia 1. Multiple alternative splice variants have been described, but the full-length nature of some variants has not been defined. [provided by RefSeq, Jul 2014]

VAMP1 Details

Gene Symbol : VAMP1

Gene Name : Vesicle associated membrane protein 1

Chromosome : CHR 12: 647,089,8-646,223,6

Locus : 12p13.31

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