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| NDUFS7 | NADH dehydrogenase [ubiquinone] iron-sulfur protein 7, mitochondrial; Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) that is believed to belong to the minimal assembly required for catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone (213 aa) | |||
| B9D2 | B9 domain-containing protein 2; Component of the tectonic-like complex, a complex localized at the transition zone of primary cilia and acting as a barrier that prevents diffusion of transmembrane proteins between the cilia and plasma membranes; B9 domain containing (175 aa) | |||
| ALKBH7 | Alpha-ketoglutarate-dependent dioxygenase alkB homolog 7, mitochondrial; May function as protein hydroxylase; can catalyze auto- hydroxylation at Leu-110 (in vitro), but this activity may be due to the absence of the true substrate. Required to induce programmed necrosis in response to DNA damage caused by cytotoxic alkylating agents. Acts by triggering the collapse of mitochondrial membrane potential and loss of mitochondrial function that leads to energy depletion and cell death. ALKBH7-mediated necrosis is probably required to prevent the accumulation of cells with DNA damage. Does [...] (221 aa) | |||
| PTCD1 | Pentatricopeptide repeat-containing protein 1, mitochondrial; Mitochondrial protein implicated in negative regulation of leucine tRNA levels, as well as negative regulation of mitochondria-encoded proteins and COX activity. Affects also the 3’-processing of mitochondrial tRNAs; Belongs to the PTCD1 family (700 aa) | |||
| KIAA1217 | Sickle tail protein homolog; Required for normal development of intervertebral disks (1943 aa) | |||
| CENPN | Centromere protein N; Component of the CENPA-NAC (nucleosome-associated) complex, a complex that plays a central role in assembly of kinetochore proteins, mitotic progression and chromosome segregation. The CENPA-NAC complex recruits the CENPA-CAD (nucleosome distal) complex and may be involved in incorporation of newly synthesized CENPA into centromeres. CENPN is the first protein to bind specifically to CENPA nucleosomes and the direct binding of CENPA nucleosomes by CENPN is required for centromere assembly. Required for chromosome congression and efficiently align the chromosomes o [...] (353 aa) | |||
| ENSG00000248919 | ATP5J2-PTCD1 readthrough (749 aa) | |||
