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

From UniProt:

Charcot-Marie-Tooth disease, demyelinating, 1G (CMT1G): An autosomal dominant demyelinating form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Demyelinating neuropathies are characterized by severely reduced nerve conduction velocities (less than 38 m/sec), segmental demyelination and remyelination with onion bulb formations on nerve biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow feet. CMT1G is characterized by distal muscle weakness and atrophy with onset in the first or second decade. [MIM:618279]

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 81,447,439 on chromosome 8 (Homo sapiens Updated Annotation Release 109.20190905, GRCh38.p13) (NCBI)

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