C19orf12 wt Allele

Preferred Label : C19orf12 wt Allele;

NCIt synonyms : Spastic Paraplegia 43 (Autosomal Recessive) Gene; Chromosome 19 Open Reading Frame 12 wt Allele; MPAN; MGC10922; Neurodegeneration with Brain Iron Accumulation 4 Gene; DKFZP762D096; NBIA3; NBIA4; SPG43;

NCIt definition : Human C19orf12 wild-type allele is located in the vicinity of 19q12 and is approximately 17 kb in length. This allele, which encodes protein C19orf12, may be involved in mitochondrial calcium ion homeostasis and cellular stress responses. Nonsense mutations in exon 3 of the gene are associated with neurodegeneration with brain iron accumulation 4 and a missense mutation may be associated with autosomal recessive spastic paraplegia 43.;

NCI Metathesaurus CUI : CL1912910;

GenBank Accession Number : AK057185;

Details

Origin ID

C192738;

UMLS CUI

C5780782;

Automatic exact mappings (from CISMeF team)
- Autosomal recessive spastic paraplegia type 43 [ORDO Disease]
- Mitochondrial membrane protein-associated neurodegeneration [ORDO Disease]
OMIM relation
- Chromosome 19 open reading frame 12 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 19q12 [NCIt concept]
gene_plays_role_in_process
- Apoptosis [NCIt concept]
- Autophagy [NCIt concept]
- Calcium Homeostasis [NCIt concept]
- Cellular Stress Response [NCIt concept]

Keyword's position in hierarchy(ies) :

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