RALGAPA1 wt Allele

Preferred Label : RALGAPA1 wt Allele;

NCIt synonyms : RalGAPalpha1; Ral GTPase Activating Protein Catalytic Alpha Subunit 1 Gene; GTPase Activating RANGAP Domain-Like 1 Gene; GRIPE; Ral GTPase Activating Protein, Alpha Subunit 1 Gene; Ral GTPase Activating Protein, Alpha Subunit 1 (Catalytic) Gene; GARNL1; p240; TULIP1; GTPase Activating Rap/RanGAP Domain-Like 1 Gene; NEDHRIT; KIAA0884; Ral GTPase Activating Protein Catalytic Subunit Alpha 1 wt Allele; DKFZp667F074;

NCIt definition : Human RALGAPA1 wild-type allele is located in the vicinity of 14q13.2 and is approximately 271 kb in length. This allele, which encodes Ral GTPase-activating protein subunit alpha-1 protein, plays a role in the activation of the small GTPases RALA and RALB. Mutation of the gene is associated with neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation.;

NCI Metathesaurus CUI : CL1773926;

GenBank Accession Number : AK126975;

Details

Origin ID

C185569;

UMLS CUI

C5575309;

Automatic exact mappings (from CISMeF team)
- Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation [OMIM Phenotype]
- Ral gtpase-activating protein, catalytic subunit alpha-1 [OMIM gene]
OMIM relation
- Ral gtpase-activating protein, catalytic subunit alpha-1 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 14q13.2 [NCIt concept]
gene_plays_role_in_process
- Signal Transduction [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients