MAP1B wt Allele

Preferred Label : MAP1B wt Allele;

NCIt synonyms : DFNA83; Protein Phosphatase 1, Regulatory Subunit 102 Gene; FUTSCH; FUTSCH, Drosophila, Homolog of Gene; MAP5; PVNH9; Microtubule Associated Protein 1B wt Allele; PPP1R102;

NCIt definition : Human MAP1B wild-type allele is located in the vicinity of 5q13.2 and is approximately 102 kb in length. This allele, which encodes microtubule-associated protein 1B, is involved in tubulin binding, the assembly of microtubules and neuronal differentiation. Mutation of the gene is associated with autosomal dominant deafness 83 and periventricular nodular heterotopia 9.;

NCI Metathesaurus CUI : CL1915336;

GenBank Accession Number : L06237;

Details

Origin ID

C200655;

UMLS CUI

C5849012;

OMIM relation
- Microtubule-associated protein 1b [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_is_element_in_pathway
- Lissencephaly-1 Gene in Neuronal Migration and Development [NCIt concept]
- Reelin Signaling Pathway PID [NCIt concept]
gene_plays_role_in_process
- Cell Movement Process [NCIt concept]
- Cytoskeletal Process [NCIt concept]
- Microtubule Polymerization Process [NCIt concept]
- Neural Development [NCIt concept]
- Regulation of Cell Shape [NCIt concept]
- Tubulin Binding [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients