Kinesin Family Member 1A

Alternative Names

  • KIF1A
  • Axonal Transporter of Synaptic Vesicles
  • ATSV
  • UNC104, C. elegans, Homolog of
  • UNC104
  • Kinesin, Heavy Chain, Member 1A, Mouse, Homolog of

Associated Diseases

NESCAV Syndrome
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OMIM Number

601255

NCBI Gene ID

547

Uniprot ID

Q12756

Length

107,637 bases

No. of Exons

55

No. of isoforms

3

Protein Name

Kinesin-like protein KIF1A

Molecular Mass

191064 Da

Amino Acid Count

1690

Genomic Location

chr2:240,713,767-240,821,403

Gene Map Locus
2q37.3

Description

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. [From RefSeq]

Epidemiology in the Arab World

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