CMT2A | definition of CMT2A by Medical dictionary
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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.
Mentioned in
?
Brain Cancer
References in periodicals archive
?
Chan, "Complementation between mouse Mfn1 and Mfn2 protects mitochondrial fusion defects caused by
CMT2A
disease mutations," Journal of Cell Biology, vol.
Cross Talk of Proteostasis and Mitostasis in Cellular Homeodynamics, Ageing, and Disease
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 ?
Genetics of hereditary motor and sensory neuropathy and the Costa Rican contribution
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