KIF1B
(redirected from CMT2A)KIF1B
A gene on chromosome 1p36.2 that encodes a motor protein that transports mitochondria and synaptic vesicle precursors.Molecular pathology
KIF1B mutations cause Charcot-Marie-Tooth disease, type 2A1.
Molecular pathology
KIF1B mutations cause Charcot-Marie-Tooth disease, type 2A1.
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References in periodicals archive
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Chan, "Complementation between mouse Mfn1 and Mfn2 protects mitochondrial fusion defects caused by CMT2A disease mutations," Journal of Cell Biology, vol.
2001) obtained evidence that the KIF1B[beta]- a protein related with CMT2A (chr.
CMTD13 1q22 MPZ Axonal Dominant CMT2A 1p36 KIFIBbeta/MFN2 CMT2B 3q13-q22 RAB7 CMT2C 12q23-24 ?
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