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Gene : KIF1A Homo sapiens

Name  ? kinesin family member 1A Cytological Location  2q37.3
Brief Description  kinesin family member 1A
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. [provided by RefSeq, Apr 2012]
  • synonyms:
  • spastic paraplegia 30 (autosomal recessive),
  • ATSV,
  • UNC104,
  • UNC104,
  • MRD9,
  • axonal transport of synaptic vesicles,
  • AF004425,
  • NM_138483,
  • HGNC:888,
  • HSN2C,
  • chromosome 2 open reading frame 20,
  • OTTHUMG00000151940,
  • C2orf20,
  • uc031rsb.2,
  • KIF1A,
  • SPG30,
  • ATSV,
  • SPG30,
  • C2orf20
  • identifiers:
  • 547,
  • ENSG00000130294,
  • KIF1A

Genome feature

Region: gene ? Length: 106545  
Location: 2:240713764-240820308 reverse strand Cyto location: 2q37.3


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SNPs

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Disease

4 Diseases

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Expression

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Other

38 SN Ps

5 Cross References

18 Data Sets

49 Homologues

0 Located Features

90 Rna Seq Results