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KIF1A 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.
Gene Name: | kinesin family member 1A |
Synonyms: | KIF1A, C2orf20, HUnc-104, Kinesin family member 1A, Kinesin-like protein KIF1A, SPG30, Tmp_locus_27, Microtubule-based motor KIF1A, MRD9, UNC104, ATSV, HSN2C |
Target Sequences: | NM_004321 NP_004312.2 Q12756 |
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