KIF1C wt Allele

Preferred Label : KIF1C wt Allele;

NCIt synonyms : SPG58; LTXS1; Kinesin Family Member 1C wt Allele; SPAX2; Spastic Ataxia 2 (Autosomal Recessive) Gene; SATX2; LTXS1, Mouse, Homolog of Gene; SAX2; KIAA0706;

NCIt definition : Human KIF1C wild-type allele is located in the vicinity of 17p13.2 and is approximately 30 kb in length. This allele, which encodes kinesin-like protein KIF1C, is involved in Golgi to ER transport along microtubules. Mutations in the gene are associated with autosomal recessive spastic ataxia 2.;

NCI Metathesaurus CUI : CL1643481;

GenBank Accession Number : U91329;

Details

Origin ID

C177663;

UMLS CUI

C5443974;

Automatic exact mappings (from CISMeF team)
- Autosomal spastic paraplegia type 58 [ORDO Disease]
- Kinesin family member 1c [OMIM gene]
- Nk1 homeobox 1 [OMIM gene]
- Spastic ataxia 2, autosomal recessive [OMIM Phenotype]
- kinesin family member 1C [ORDO Gene]
OMIM relation
- Kinesin family member 1c [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 17p13.2 [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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