WASHC5 wt Allele

Preferred Label : WASHC5 wt Allele;

NCIt synonyms : SPG8; RTSC; Spastic Paraplegia 8 (Autosomal Dominant) Gene; KIAA0196; RTSC1; WASH Complex Subunit 5 wt Allele;

NCIt definition : Human WASHC5 wild-type allele is located in the vicinity of 8q24.13 and is approximately 68 kb in length. This allele, which encodes WASH complex subunit strumpellin protein, plays a role in the induction of actin polymerization. Mutations in this gene are associated with autosomal dominant spastic paraplegia 8.;

GenBank Accession Number : NM_014846;

Details

Origin ID

C112063;

UMLS CUI

C3813605;

Automatic exact mappings (from CISMeF team)
- Autosomal dominant spastic paraplegia type 8 [ORDO Disease]
- Ritscher-schinzel syndrome 1 [OMIM Phenotype]
- Spastic paraplegia 8, autosomal dominant [OMIM Phenotype]
- WASH complex subunit 5 [ORDO Gene]
- Wash complex, subunit 5 [OMIM gene]
- hereditary spastic paraplegia 8 [DO Concept]
OMIM relation
- Wash complex, subunit 5 [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_plays_role_in_process
- Intracellular Transport [NCIt concept]
- Ligand Binding [NCIt concept]
- Transport Process [NCIt concept]

Keyword's position in hierarchy(ies) :

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