KIF1B


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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.
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Main keywords used were "pheochromocytoma," "paraganglioma," "genetic testing," "mutation," "genotype," "phenotype," "malignant," "metastatic," "pediatrics," "child," "preschool child," "VHL," "RET," "NF1," "SDHB," "SDHD," "SDHA," "SDHC," "SDHAF2," "TMEM127," "MAX," "HIF2A," "FH," "PHD1," "PHD2," "MDH2," and "KIF1B." We included clinical and molecular studies (single cases and case series); we did not exclude any age to minimize missing pediatric cases of cohort studies that considered all ages.
These genes are TMEM127 (MIM * 613403), PHD2 (MIM * 606425), SDHAF2 (MIM * 613019), SDHC (MIM * 602413), HRAS (MIM * 190020), KIF1B (MIM * 605995), and ATRX (MIM * 300032) [10, 11, 15, 17-20, 31-33, 52, 53].
Use of equivalence-based analyses in genetic epidemiology and a conclusion forthe KIF1B rs10492972*C allelic association in multiple sclerosis," Genetic Epidemiology, vol.
In the near future, a new central nervous system pathway for pathogenesis and outcome may be elucidated with the presence of an association of MS with Kif1b, a gene involved in axonal transport.
Using next generation sequencing and transcriptome analysis, researchers have identified many PPGL susceptibility genes, which are classified into two clusters: cluster 1 (the angiogenic cluster) consists of EGLN1, PHD2, VHL, SDHX, IDH, HIF2A, EPAS1, FH, and MDH2, while cluster 2 (the kinase signaling cluster) includes KIF1B, RET, NF1, TMEM127, MAX, and MEN1 [4, 23].
More recently, the TMEM127, MAX, HIF2A, EGLN1, KIF1B, and H-RAS complete the list of susceptibility genes implicated in the development of paragangliomas/pheochromocytomas [35-40].
KIF1B. Kinesin family member 1B (KIF1B) gene expression results in two protein isoforms, KIF1B[alpha] and KIF1B[beta], which are motor proteins involved in the anterograde transport of mitochondria and synaptic vesicle precursors, respectively [146, 147].