Gene Symbol | KIF1A |
Entrez Gene ID | 547 |
Full Name | kinesin family member 1A |
Synonyms | ATSV,C2orf20,HSN2C,MRD9,SPG30,UNC104 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Spastic paraplegia 30, autosomal recessive, 610357 (3); Neuropathy, hereditary sensory, type IIC, 614213 (3); Mental retardation, autosomal dominant 9, 614255 (3) |