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FLASH GENE

Symbol

KIF5A

contributors: mct/shn - updated : 30-08-2023

HGNC name	kinesin family member 5A
HGNC id	6323

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

SPG10 , NEIMY , ALS25

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral   amplification     amplified in certain tumors constitutional       loss of function mimics APP-induced axonal mitochondrial transport deficits, indicating a potential role of KIF5A deficiency in Alzheimer Disease-relevant axonal mitochondrial traffic abnormalities

Susceptibility

to multiple sclerosis

Variant & Polymorphism SNP	rs1678542 in KIF5A confer susceptibility for multiple sclerosis (Pubmed 20508602)

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed neurology neurodegenerative alzheimer potential therapeutic avenue by protecting KIF5A function for the treatment of AD

ANIMAL & CELL MODELS

	KIF5A knockout (KIF5A( -/- )) mice die early after birth whose lungs are unexpanded, and cell bodies of lower motor neurons in the spinal cord swollen
	Outgrowth of axons and dendrites is remarkably diminished in mouse KIF5A( -/- ) motor neurons and the number of axonal branches is reduced and sensory neurons, neurite outgrowth as well
	Ectopic expression of Drosophila Khc carrying a human KIF5A-associated mutation (N256S) is sufficient to disturb axonal transport and to induce motoneuron disease in Drosophila