PLEKHG5 wt Allele

Preferred Label : PLEKHG5 wt Allele;

NCIt synonyms : GEF720; DSMA4; Syx; Tech; CMTRIC; Pleckstrin Homology Domain-Containing Protein, Family G. Member 5 Gene; KIAA0720; Pleckstrin Homology and RhoGEF Domain Containing G5 wt Allele; Pleckstrin Homology Domain Containing, Family G (with RhoGef Domain) Member 5 Gene;

NCIt definition : Human PLEKHG5 wild-type allele is located in the vicinity of 1p36.31 and is approximately 54 kb in length. This allele, which encodes pleckstrin homology domain-containing family G member 5 protein, is involved in the regulation of nuclear factor kappa B and transforming protein RhoA signaling pathways. Mutation of the gene is associated with recessive intermediate Charcot-Marie-Tooth disease type C and autosomal recessive distal spinal muscular atrophy.;

NCI Metathesaurus CUI : CL552120;

GenBank Accession Number : AK024676;

Details

Origin ID

C150302;

UMLS CUI

C4723864;

Automatic exact mappings (from CISMeF team)
- Autosomal recessive lower motor neuron disease with childhood onset [ORDO Disease]
- Charcot-Marie-Tooth disease recessive intermediate C [DO Concept]
- Charcot-marie-tooth disease, recessive intermediate C [OMIM Phenotype]
- Pleckstrin homology domain- and rhogef domain-containing protein g5 [OMIM gene]
- Spinal muscular atrophy, distal, autosomal recessive, 4 [OMIM Phenotype]
- distal spinal muscular atrophy type 4 [DO Concept]
- pleckstrin homology and RhoGEF domain containing G5 [ORDO Gene]
- spinal muscular atrophy, distal, autosomal recessive, 4 [MeSH Supplementary Concept]
OMIM relation
- Pleckstrin homology domain- and rhogef domain-containing protein g5 [OMIM gene]
See also inter- (CISMeF)
- Autosomal recessive lower motor neuron disease with childhood onset [ICD-11 More detail]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_plays_role_in_process
- G Protein-Coupled Receptor Signaling [NCIt concept]
- Signal Transduction [NCIt concept]

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