OPHN1 wt Allele

Preferred Label : OPHN1 wt Allele;

NCIt synonyms : MRX60; Oligophrenin-1, Rho-GTPase Activating Protein Gene; ARHGAP41; OPN1; Oligophrenin 1 wt Allele; Mental Retardation, X-Linked 60 Gene;

NCIt definition : Human OPHN1 wild-type allele is located in the vicinity of Xq12 and is approximately 392 kb in length. This allele, which encodes oligophrenin-1 protein, is involved in the regulation of small GTPase mediated signal transduction. Mutation of the gene is associated with X-linked mental retardation with cerebellar hypoplasia and distinctive facial dysmorhphism.;

NCI Metathesaurus CUI : CL509518;

GenBank Accession Number : AJ001189;

Details

Origin ID

C127846;

UMLS CUI

C4283939;

Automatic exact mappings (from CISMeF team)
- Intellectual developmental disorder, X-linked, syndromic, billuart type [OMIM Phenotype]
- Oligophrenin 1 [OMIM gene]
- oligophrenin 1 [ORDO Gene]
OMIM relation
- Oligophrenin 1 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- Xq12 [NCIt concept]
gene_is_element_in_pathway
- Rho Cell Motility Signaling Pathway [NCIt concept]
gene_plays_role_in_process
- Cytoskeletal Modeling [NCIt concept]
- Regulation of Cell Shape [NCIt concept]
- Signal Transduction [NCIt concept]

Keyword's position in hierarchy(ies) :

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