" /> KIF5A wt Allele - CISMeF





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;

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19/05/2024


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