Gap Junction Protein Beta 1 (GJb1)

CMTX1; CX32; GJ-B1; Connexin 32; Charcot-Marie-Tooth Neuropathy,X-Linked; GAP junction 28 kDa liver protein

SPN	U349
HGNC	4283
MGI	95719
PubMed	12185164
RGD	61926
UniProt	P08034
Wiki	GJB1

Gap junction protein, beta 1, 32kDa, also known as GJB1.CMTX1 is a form of Charcot-Marie-Tooth disease, the most common inherited disorder of the peripheral nervous system. Charcot- Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies characterized by severely reduced motor nerve conduction velocities (NCVs) (less than 38m/s) and segmental demyelination and remyelination, and primary peripheral axonal neuropathies characterized by normal or mildly reduced NCVs and chronic axonal degeneration and regeneration on nerve biopsy. CMTX1 has both demyelinating and axonal features. Central nervous system involvement may occur.

Reference

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Erratum
Hum. Mutat. 16:175-175(2000)

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Erratum
Hum. Mutat. 24:350-350(2004)

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Muscle Nerve 31:252-255(2005) [PubMed] [Europe PMC] [Abstract]

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Neurogenetics 6:159-163(2005) [PubMed] [Europe PMC] [Abstract]