Function
May play a role in the respiratory chain.
Biological Context
Subcellular Location: Mitochondrion matrix
Disease Association: Combined oxidative phosphorylation deficiency 53 (COXPD53) : An autosomal recessive mitochondrial disorder characterized by global developmental delay, hypomyelination, cerebral atrophy, microcephaly, liver dysfunction, and recurrent autoinflammation. [The disease is caused by variants affecting the gene represented in this entry]
Product Specifications
Recombinant Human UPF0565 protein C2orf69 (C2orf69) is a recombinant protein from Homo sapiens (Human), expressed in Baculovirus, covering amino acids 25-385aa, with N-terminal 10xHis-tagged and C-terminal Myc-tagged tag, molecular weight 44.7kDa, purity Greater than 85% as determined by SDS-PAGE.. Suitable for ELISA and Western Blot applications.
