ⓘ CHCHD2

                                     

ⓘ CHCHD2

The protein encoded by this gene belongs to a class of eukaryotic CX9C proteins characterized by four cysteine residues spaced ten amino acids apart from one another. These residues form disulfide linkages that define a CHCH fold. In response to stress, the protein translocates from the mitochondrial intermembrane space to the nucleus where it binds to a highly conserved 13 nucleotide oxygen responsive element in the promoter of cytochrome oxidase 4I2, a subunit of the terminal enzyme of the electron transport chain.

Together with the recombination sequence-binding signaling protein j, to bind this protein activates the oxygen responsive element four percent oxygen. In addition, it was shown that this protein is a negative regulator of mitochondria-mediated apoptosis. In response to apoptotic stimuli, the mitochondrial levels of the protein decrease, allowing BCL2-associated x protein oligomerize and activate the caspase Cascade. Pseudogenes of this gene are located on different chromosomes. Alternative splicing results in multiple transcripts variants.

                                     
  • encoded by the CHCHD 10 gene. The CHCHD 10 gene is located on the q arm of chromosome 22 at position 11.23 and it spans 2 138 base pairs. The CHCHD 10 gene produces
  • known to have unique protein protein interactions with APP, KRT31, and CHCHD 4. Entrez Gene: Cytochrome c oxidase assembly factor 5 Retrieved 2018 - 08 - 07
  • transaminases. C19orf70 has been known to interact with MRPL24, APOOL, STOML 2 IMMT, MTX1, CHCHD 3, and other proteins. GRCh38: Ensembl release 89: ENSG00000174917
  • and MFN 2 may be associated with Parkinson s disease. OPA1 has been shown to interact with: Adenonucleotide transporters, ATP synthase, CHCHD 3, Mitofilin
  • dementia FTD ALS The four main genes associated with FTD ALS are C9orf72, CHCHD 10, SQSTM1, and TBK1. C9orf72 repeat expansions explain about 40 of familial
  • the development of PD, including SNCA, LRRK 2 PARK8, GBA, PRKN, PINK1, DJ1 PARK7, VPS35, EIF4G1, DNAJC13, CHCHD2 and UCHL1. About 5 of people with PD have
  • and up to 50 of FTD patients. Other genes known to cause FTD - ALS include CHCHD 10, SQSTM1, and TBK1. Where no family history of the disease is present
  • Truglio M, Fabbretti M, Torres B, et al. December 2019 A new case of SMABF 2 diagnosed in stillbirth expands the prenatal presentation and mutational spectrum
  • Frontotemporal dementia C9orf72, SOD1, FUS, TARDBP, CHCHD 10, MAPT Alstrom syndrome ALMS1 Alzheimer s disease PSEN1, PSEN 2 APP, APOEε4 Amelogenesis imperfecta Aminolevulinic