KIF1B wt Allele

Preferred Label : KIF1B wt Allele;

NCIt synonyms : KLP; Kinesin Family Member 1B wt Allele; CMT2A1; NBLST1; CMT2A; KIAA0591; HMSNII; KIAA1448; CMT2;

NCIt definition : Human KIF1B wild-type allele is located in the vicinity of 1p36.22 and is approximately 171 kb in length. This allele, which encodes kinesin-like protein KIF1B, is involved in the transport of synaptic vesicles and mitochondria. Mutation of the gene is associated with pheochromocytoma, increased susceptibility to neuroblastoma and Charcot-Marie-Tooth disease type 2A1.;

NCI Metathesaurus CUI : CL553339;

GenBank Accession Number : AF257176;

Details

Origin ID

C152003;

UMLS CUI

C4723889;

Automatic exact mappings (from CISMeF team)
- Autosomal dominant Charcot-Marie-Tooth disease type 2 [ORDO Disease]
- Autosomal dominant Charcot-Marie-Tooth disease type 2A1 [ORDO Disease]
- Charcot-Marie-Tooth disease type 2A1 [DO Concept]
- Charcot-Marie-Tooth disease, axonal, type 2a1 [MeSH Supplementary Concept]
- Charcot-marie-tooth disease, X-linked dominant, 1 [OMIM Phenotype]
- Charcot-marie-tooth disease, axonal, type 2a1 [OMIM Phenotype]
- Kinesin family member 1b [OMIM gene]
- Mad2l1-binding protein [OMIM gene]
- Neuroblastoma, susceptibility to, 1 [OMIM Phenotype]
- kinesin family member 1B [ORDO Gene]
OMIM relation
- Kinesin family member 1b [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) :

You can consult :

recommendations
documents concerning education
documents for patients