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Results 1 - 3 of 3
EC Number Protein Variants Commentary Reference
Show all pathways known for 1.1.99.1Display the word mapDisplay the reaction diagram Show all sequences 1.1.99.1G233T naturally occuring mutation, identificatin of polymorphism rs12676, a non-synonymous SNP located in the CHDH coding region, which is associated with altered sperm motility patterns and dysmorphic mitochondrial structure in sperm, and is associated with increased susceptibility to dietary choline deficiency and risk of breast cancer, phenotye, overview 726295
Show all pathways known for 1.1.99.1Display the word mapDisplay the reaction diagram Show all sequences 1.1.99.1L78X localization of Leu78, which is relevant to the polymorphism rs12676 associated with male infertility and increased risk factor for breast cancer, on the surface of the enzyme. Such a replacement of a hydrophobic residue with a positively charge one would locally alter the polarity of the enzyme surface, perhaps decreasing the stability of the enzyme 741756
Show all pathways known for 1.1.99.1Display the word mapDisplay the reaction diagram Show all sequences 1.1.99.1more construction of a series of CHDH deletion mutants in HeLa cells. Overexpression of the CHDH-RDDELTA or CHDHFB2DELTA mutants induces colocalization of GFP-LC3 with Mito-RFP as effectively as wild-type CHDH, but the CHDH-FB1DELTA mutant fails to do so. Knockdown of CHDH expression impairs CCCP-induced mitophagy and PARK2/parkin-mediated clearance of mitochondria in mammalian cells, including HeLa cells. Conversely, overexpression of CHDH accelerates PARK2-mediated mitophagy. Overexpression of the FB1 domain only in cytosol reduces CCCP-induced mitochondrial degradation via competitive interaction with SQSTM1 741800
Results 1 - 3 of 3