ACTB Summary

This gene encodes one of six different actin proteins. Actins are highly conserved proteins that are involved in cell motility, structure, integrity, and intercellular signaling. The encoded protein is a major constituent of the contractile apparatus and one of the two nonmuscle cytoskeletal actins that are ubiquitously expressed. Mutations in this gene cause Baraitser-Winter syndrome 1, which is characterized by intellectual disability with a distinctive facial appearance in human patients. Numerous pseudogenes of this gene have been identified throughout the human genome. [provided by RefSeq, Aug 2017]

ACTB Details

Gene Symbol : ACTB

Gene Name : Actin beta

Chromosome : CHR 7: 553,060,0-552,714,7

Locus : 7p22.1

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PMP2 Summary

The protein encoded by this gene localizes to myelin sheaths of the peripheral nervous system. The encoded protein can bind both the membrane layers of the sheaths and monomeric lipids, and is thought to provide stability to the sheath. A defect in this gene was shown to be a cause of dominant demyelinating CMT neuropathy. [provided by RefSeq, Jan 2017]

PMP2 Details

Gene Symbol : PMP2

Gene Name : Peripheral myelin protein 2

Chromosome : CHR 8: 814,474,83-814,403,25

Locus : 8q21.13

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