KIF1A wt Allele

Preferred Label : KIF1A wt Allele;

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

NCIt 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.;

NCI Metathesaurus CUI : CL1799293;

GenBank Accession Number : AF004425;

Details

Origin ID

C190813;

UMLS CUI

C5780777;

Automatic exact mappings (from CISMeF team)
- Autosomal spastic paraplegia type 30 [ORDO Disease]
OMIM relation
- Kinesin family member 1a [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_plays_role_in_process
- ATP Hydrolysis [NCIt concept]
- Intracellular Transport [NCIt concept]
- Ligand Binding [NCIt concept]
- Microtubule Process [NCIt concept]
- Transport Process [NCIt concept]

Keyword's position in hierarchy(ies) :

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