Gene: KIF1B

Alternate names for this Gene: CMT2|CMT2A|CMT2A1|HMSNII|KLP|NBLST1

Gene Summary: This gene encodes a motor protein that transports mitochondria and synaptic vesicle precursors. Mutations in this gene cause Charcot-Marie-Tooth disease, type 2A1.

Gene is located in Chromosome: 1

Location in Chromosome : 1p36.22

Description of this Gene: kinesin family member 1B

Type of Gene: protein-coding

rs4846204 in KIF1B gene and Body Fat Distribution PMID 30664634 2019 Genome-wide association study of body fat distribution identifies adiposity loci and sex-specific genetic effects.

rs7524908 in KIF1B gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs121908160 in KIF1B gene and Charcot-Marie-Tooth Disease, Axonal, Type 2a1 PMID 11389829 2001 Charcot-Marie-Tooth disease type 2A caused by mutation in a microtubule motor KIF1Bbeta.

rs112682076 in KIF1B gene and Hematocrit procedure PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs17401966 in KIF1B gene and Hepatitis B PMID 21750111 2011 A genome-wide association study of chronic hepatitis B identified novel risk locus in a Japanese population.

rs17401966 in KIF1B gene and Liver carcinoma PMID 23242368 2013 Genetic variants in STAT4 and HLA-DQ genes confer risk of hepatitis B virus-related hepatocellular carcinoma.

PMID 20676096 2010 We identified one intronic SNP (rs17401966) in KIF1B on chromosome 1p36.22 that was highly associated with HBV-related HCC and confirmed this association in five additional independent samples, consisting of 1,962 individuals with HCC, 1,430 control subjects and 159 family trios.

rs10492972 in KIF1B gene and Multiple Sclerosis PMID 18997785 2008 Genetic variation in the KIF1B locus influences susceptibility to multiple sclerosis.

rs121908163 in KIF1B gene and NEUROBLASTOMA, SUSCEPTIBILITY TO PMID 18334619 2008 The kinesin KIF1Bbeta acts downstream from EglN3 to induce apoptosis and is a potential 1p36 tumor suppressor.

rs11121529 in KIF1B gene and Platelet mean volume determination (procedure) PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

PMID 22139419 2011 New gene functions in megakaryopoiesis and platelet formation.

rs4846204 in KIF1B gene and Red Blood Cell Count measurement PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs17396340 in KIF1B gene and Smoking PMID 28443625 2017 Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits.

rs17396340 in KIF1B gene and Smoking Behaviors PMID 28443625 2017 Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits.

rs112682076 in KIF1B gene and White Blood Cell Count procedure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.