Gene: KIF5A

Alternate names for this Gene: ALS25|D12S1889|MY050|NEIMY|NKHC|SPG10

Gene Summary: This gene encodes a member of the kinesin family of proteins. Members of this family are part of a multisubunit complex that functions as a microtubule motor in intracellular organelle transport. Mutations in this gene cause autosomal dominant spastic paraplegia 10.

Gene is located in Chromosome: 12

Location in Chromosome : 12q13.3

Description of this Gene: kinesin family member 5A

Type of Gene: protein-coding

rs1399145820 in KIF5A gene and AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO, 25 PMID 29566793 2018 Genome-wide Analyses Identify KIF5A as a Novel ALS Gene.

PMID 29342275 2018 Hot-spot KIF5A mutations cause familial ALS.

rs113247976 in KIF5A gene and Amyotrophic Lateral Sclerosis PMID 29566793 2018 Genome-wide Analyses Identify KIF5A as a Novel ALS Gene.

rs1678542 in KIF5A gene and Autoimmune Diseases PMID 21383967 2011 Meta-analysis of genome-wide association studies in celiac disease and rheumatoid arthritis identifies fourteen non-HLA shared loci.

rs775249 in KIF5A gene and Blood Protein Measurement PMID 30072576 2018 Co-regulatory networks of human serum proteins link genetics to disease.

rs1678542 in KIF5A gene and Immune System Diseases PMID 21383967 2011 Meta-analysis of genome-wide association studies in celiac disease and rheumatoid arthritis identifies fourteen non-HLA shared loci.

rs1678542 in KIF5A gene and Rheumatoid Arthritis PMID 18794853 2008 Common variants at CD40 and other loci confer risk of rheumatoid arthritis.

PMID 24449572 2014 Novel rheumatoid arthritis susceptibility locus at 22q12 identified in an extended UK genome-wide association study.

rs1555177629 in KIF5A gene and Spastic Paraplegia PMID 21623771 2012 Mutations in the motor and stalk domains of KIF5A in spastic paraplegia type 10 and in axonal Charcot-Marie-Tooth type 2.

PMID 18853458 2009 Complicated forms of autosomal dominant hereditary spastic paraplegia are frequent in SPG10.

PMID 26543653 2015 Progressive Lower Extremity Weakness and Axonal Sensorimotor Polyneuropathy from a Mutation in KIF5A (c.611G>A;p.Arg204Gln).

PMID 25008398 2014 Extended phenotypic spectrum of KIF5A mutations: From spastic paraplegia to axonal neuropathy.

rs1555177629 in KIF5A gene and Spastic Paraplegia, Hereditary PMID 28832565 2017 Massive sequencing of 70 genes reveals a myriad of missing genes or mechanisms to be uncovered in hereditary spastic paraplegias.

rs121434441 in KIF5A gene and Spastic paraplegia 10, autosomal dominant PMID 21107874 2011 A novel mutation in KIF5A gene causing hereditary spastic paraplegia with axonal neuropathy.

PMID 16476820 2006 A missense mutation in the coiled-coil domain of the KIF5A gene and late-onset hereditary spastic paraplegia.

PMID 18245137 2008 SPG10 is a rare cause of spastic paraplegia in European families.

PMID 18203753 2008 Effect of spastic paraplegia mutations in KIF5A kinesin on transport activity.

PMID 18853458 2009 Complicated forms of autosomal dominant hereditary spastic paraplegia are frequent in SPG10.

PMID 15452312 2004 Evidence of kinesin heavy chain (KIF5A) involvement in pure hereditary spastic paraplegia.

PMID 12355402 2002 A kinesin heavy chain (KIF5A) mutation in hereditary spastic paraplegia (SPG10).

PMID 16489470 2006 Mutation in KIF5A can also cause adult-onset hereditary spastic paraplegia.