KIF1A

The protein encoded by this gene is a member of the kinesin family and functions as an anterograde motor protein that transports membranous organelles along axonal microtubules. Mutations at this locus have been associated with spastic paraplegia-30 and hereditary sensory neuropathy IIC. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Apr 2012]

Description

kinesin family member 1A

Protein family

Disease related genes, Mapped to neXtProt, Mapped to UniProt SWISS-PROT, Predicted intracellular proteins, Protein evidence (Peptideatlas)

Chromosome

2:q37.3 (240713761 - 240821036)

Ensembl ID

ENSG00000130294  (ver. 99.38)

Orthologs

Mouse Kif1a: ENSMUSG00000014602

UniProt

Q12756

neXtProt

NX_Q12756

Human splice variants
Mouse splice variants