C1QBP wt Allele

Preferred Label : C1QBP wt Allele;

NCIt synonyms : SF2AP32; p32; SF2P32; Complement C1q Binding Protein wt Allele; C1q Globular Domain-Binding Protein Gene; Splicing Factor SF2-Associated Protein Gene; gC1qR; COXPD33; gC1Q-R; Globular Domain of C1q, Receptor for Gene; GC1QBP; HABP1;

NCIt definition : Human C1QBP wild-type allele is located in the vicinity of 17p13.2 and is approximately 16 kb in length. This allele, which encodes complement component 1 Q subcomponent-binding protein, mitochondrial protein, plays a role in complement pathway regulation, mitochondrial protein synthesis, ribosome maturation, mRNA splicing, apoptosis and transcriptional regulation. Mutations in the gene are associated with combined oxidative phosphorylation deficiency 33.;

NCI Metathesaurus CUI : CL1799033;

GenBank Accession Number : X75913;

Details

Origin ID

C190303;

UMLS CUI

C5780739;

OMIM relation
- Complement component c1q-binding protein [OMIM gene]
See also inter- (CISMeF)
- Combined oxidative phosphorylation deficiency 33 [OMIM Phenotype]
- combined oxidative phosphorylation deficiency 33 [DO Concept]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
Validated automatic mappings to NTBT
- Complement component c1q-binding protein [OMIM gene]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 17p13.2 [NCIt concept]
gene_plays_role_in_process
- Complement Activation [NCIt concept]
- Immunoregulation [NCIt concept]
- Protein Synthesis [NCIt concept]
- RNA Splicing [NCIt concept]
- Regulation of Cell Death Process [NCIt concept]

Keyword's position in hierarchy(ies) :

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