KIF1B

(redirected from KIAA0591)

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.
Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.
Mentioned in ?
References in periodicals archive ?
Of the 14 proteins found in only some groups, seven (Sacsin, carboxy-terminal domain RNA polymerase II polypeptide A small phosphatase 3, KIAA0591 protein, metabotropic glutamate receptor 5 isoform b precursor, UBA3, vacuolar protein sorting-associated protein 45, and E3 ubiquitin-protein ligase HECTD1) were only found in patients groups and were absent from controls, although the level of the 7 proteins was similar between the patient groups (data not shown).