PMP2 gene

peripheral myelin protein 2

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From UniProt:

May play a role in lipid transport protein in Schwann cells. May bind cholesterol.

From NCBI Gene:

  • CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1G

Cytogenetic Location: 8q21.13, which is the long (q) arm of chromosome 8 at position 21.13

Molecular Location: base pairs 81,440,326 to 81,447,523 on chromosome 8 (Homo sapiens Annotation Release 109, GRCh38.p12) (NCBI)

Cytogenetic Location: 8q21.13, which is the long (q) arm of chromosome 8 at position 21.13
  • CMT1G
  • FABP8
  • M-FABP
  • MP2
  • P2