EFHC1 wt Allele

Preferred Label : EFHC1 wt Allele;

NCIt synonyms : POC9; EF-Hand Domain Containing 1 wt Allele; dJ304B14.2; Epilepsy, Juvenile Myoclonic 1 Gene; RIB72; EF-Hand Domain (C-Terminal) Containing 1 Gene; EJM; EJM1;

NCIt definition : Human EFHC1 wild-type allele is located in the vicinity of 6p12.2 and is approximately 168 kb in length. This allele, which encodes EF-hand domain-containing protein 1, plays a role in cell division and neuronal migration. Mutation of the gene is associated with increased susceptibility to both juvenile myoclonic epilepsy 1 and juvenile absence epilepsy 1.;

NCI Metathesaurus CUI : CL1915466;

GenBank Accession Number : AK001328;

Details

Origin ID

C201089;

UMLS CUI

C5849010;

OMIM relation
- Ef-hand domain (C-terminal)-containing protein 1 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_plays_role_in_process
- Calcium Binding [NCIt concept]
- Cell Division Process [NCIt concept]
- Cell Movement Process [NCIt concept]
- Cellular Migration Process [NCIt concept]
- Cytokinesis [NCIt concept]
- Cytoskeletal Process [NCIt concept]
- Regulation of Cell Shape [NCIt concept]
- Spindle Assembly Interaction [NCIt concept]
- Tubulin Binding [NCIt concept]

Keyword's position in hierarchy(ies) :

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