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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Brain Cancer

References in periodicals archive ?

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].

A Clinical Roadmap to Investigate the Genetic Basis of Pediatric Pheochromocytoma: Which Genes Should Physicians Think About?

Use of equivalence-based analyses in genetic epidemiology and a conclusion forthe KIF1B rs10492972*C allelic association in multiple sclerosis," Genetic Epidemiology, vol.

Increasing incidence in relapsing-remitting MS and high rates among young women in Finland: a thirty-year follow-up

Genetic variation in the KIF1B locus influences susceptibility to multiple sclerosis.

Association between tumor necrosis factor-[alpha]-308 G/A polymorphism and multiple sclerosis: a systematic review and meta-analysis

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.

MS Forum workshop: looking ahead--advances in multiple sclerosis in the next decade: Athens, Greece, 22 October 2008

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].

A Novel RET D898Y Germline Mutation in a Patient with Pheochromocytoma

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].