HSPD1 wt Allele

Preferred Label : HSPD1 wt Allele;

NCIt synonyms : HLD4; CPN60; Spastic Paraplegia 13 (Autosomal Dominant) Gene; HSP60; HSP-60; HSP65; GroEL; Heat Shock 60kDa Protein 1 (Chaperonin) wt Allele; SPG13; HuCHA60;

NCIt definition : Human HSPD1 wild-type allele is located in the vicinity of 2q33.1 and is approximately 30 kb in length. This allele, which encodes 60 kDa heat shock protein, mitochondrial, is involved in both import and folding of mitochondrial proteins. Mutation of the gene is associated with spastic paraplegia 13 and leukodystrophy hypomyelinating type 4.;

GenBank Accession Number : M34664;

Details

Origin ID

C104339;

UMLS CUI

C3538704;

Automatic exact mappings (from CISMeF team)
- Autosomal dominant spastic paraplegia type 13 [ORDO Disease]
- Heat-shock 60-kd protein 1 [OMIM gene]
- Leukodystrophy, hypomyelinating, 4 [OMIM Phenotype]
- Spastic paraplegia 13, autosomal dominant [OMIM Phenotype]
- chaperonin 60 [MeSH Descriptor]
- heat shock protein family D (Hsp60) member 1 [ORDO Gene]
- hereditary spastic paraplegia 13 [DO Concept]
OMIM relation
- Heat-shock 60-kd protein 1 [OMIM gene]
See also inter- (CISMeF)
- hypomyelinating leukodystrophy 4 [DO Concept]
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
- 2q33.1 [NCIt concept]
gene_is_element_in_pathway
- RNA Degradation Pathway [NCIt concept]
- Type I Diabetes Mellitus Pathway [NCIt concept]
gene_plays_role_in_process
- Protein Folding [NCIt concept]
- Subcellular Protein Targeting [NCIt concept]
- Unfolded Protein Response [NCIt concept]

Keyword's position in hierarchy(ies) :

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