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C190813Level 5

KIF1A wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human KIF1A wild-type allele is located in the vicinity of 2q37.3 and is approximately 111 kb in length. This allele, which encodes kinesin-like protein KIF1A, plays a role in axonal vesicle transport. Mutation of the gene is associated with NESCAV syndrome, spastic paraplegia 30 and hereditary sensory neuropathy 2C.

**Synonyms:** - ATSV - Axonal Transport of Synaptic Vesicles Gene - C2orf20 - Chromosome 2 Open Reading Frame 20 Gene - HSN2C - Kinesin Family Member 1A wt Allele - Kinesin, Heavy Chain, Member 1A, Homolog of Mouse Gene - Kinesin, Heavy Chain, Member 1A, Mouse, Homolog of Gene - MRD9 - NESCAVS - SPG30 - Spastic Paraplegia 30 (Autosomal Dominant) Gene - Spastic Paraplegia 30 (Autosomal Recessive) Gene - UNC104 - UNC104, C. elegans, Homolog of Gene

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