KIF1A kinesin family member 1A

Gene ID: 547, updated on 3-Apr-2024
Gene type: protein coding
Also known as: ATSV; MRD9; HSN2C; SPG30; UNC104; C2orf20; NESCAVS

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]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Hereditary spastic paraplegia 30 MedGen: C5235139OMIM: 610357GeneReviews: Not available	See labs
Intellectual disability, autosomal dominant 9 MedGen: C5393830OMIM: 614255GeneReviews: Not available	See labs
Neuropathy, hereditary sensory and autonomic, type 2A MedGen: C2752089OMIM: 201300GeneReviews: Hereditary Sensory and Autonomic Neuropathy Type II	See labs
Neuropathy, hereditary sensory, type 2C MedGen: C3280168OMIM: 614213GeneReviews: Hereditary Sensory and Autonomic Neuropathy Type II	See labs

Copy number response

Description
Copy number response Haploinsufficency No evidence available (Last evaluated 2013-08-08) ClinGen Genome Curation Page Triplosensitivity No evidence available (Last evaluated 2013-08-08) ClinGen Genome Curation Page

Genomic context

Location:: 2q37.3

Sequence:: Chromosome: 2; NC_000002.12 (240713767..240821403, complement)

Total number of exons:: 55

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for KIF1A variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
KIF1A @ LOVD
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
Variation Viewer
Related Variants

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