Species Human Entrez 547 | Human Mouse Ensembl ENSG00000130294 | |
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Aliases KIF1A, ATSV, C2orf20, HSN2C, MRD9, SPG30, UNC104, kinesin family member 1A External IDs MGI: 108391 HomoloGene: 99729 GeneCards: KIF1A | ||
Kinesin-like protein KIF1A, also known as axonal transporter of synaptic vesicles or microtubule-based motor KIF1A, is a protein that in humans is encoded by the KIF1A gene.
Contents
Function
KIF1A is a member of the kinesin family. This protein is highly similar to mouse heavy-chain kinesin member 1A protein, which is an anterograde motor protein that transports membranous organelles along axonal microtubules. It is thought that this protein may play a critical role in the development of axonal neuropathies resulting from impaired axonal transport. There are multiple polyadenylation sites found in this gene. Sexual orientation has been linked to the regulatory domain of the gene.
Clinical significance
KIF1A is associated with hereditary spastic paraparesis.
References
KIF1A Wikipedia(Text) CC BY-SA