C1QBP wt Allele

**Semantic type:** Gene or Genome

**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.

**Synonyms:** - C1q Globular Domain-Binding Protein Gene - COXPD33 - Complement C1q Binding Protein wt Allele - GC1QBP - Globular Domain of C1q, Receptor for Gene - HABP1 - SF2AP32 - SF2P32 - SF2p32 - Splicing Factor SF2-Associated Protein Gene - gC1Q-R - gC1qR - p32