KIF5A wt Allele

Preferred Label : KIF5A wt Allele;

NCIt synonyms : Kinesin, Heavy Chain, Neuron-Specific Gene; Spastic Paraplegia 10 (Autosomal Dominant) Gene; Kinesin Family Member 5A wt Allele; D12S1889; NKHC; NKHC1; Neuron-Specific Kinesin Heavy Chain Gene; NEIMY; MY050; SPG10; ALS25;

NCIt definition : Human KIF5A wild-type allele is located in the vicinity of 12q13.3 and is approximately 41 kb in length. This allele, which encodes kinesin heavy chain isoform 5A protein, is involved in transport of neurofilament proteins, axon elongation, vesicular transport and the formation of neurite-like membrane protrusions. Mutation of the gene is associated with intractable neonatal myoclonus, autosomal dominant spastic paraplegia 10 and susceptibility to amyotrophic lateral sclerosis type 25.;

NCI Metathesaurus CUI : CL1905149;

GenBank Accession Number : U06698;

Détails

Origin ID

C191840;

UMLS CUI

C5780947;

OMIM relation
- Kinesin family member 5a [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 12q13.3 [NCIt concept]
gene_is_element_in_pathway
- Alzheimer's Disease Pathway KEGG [NCIt concept]
- Amyotrophic Lateral Sclerosis Pathway [NCIt concept]
- Endocytosis Pathway [NCIt concept]
- Huntington's Disease Pathway [NCIt concept]
- Non-Small Cell Lung Cancer Pathway [NCIt concept]
- Parkinson's Disease Pathway KEGG [NCIt concept]
- Prion Disease Pathway [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]

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