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Citrate synthase (E.C. 2.3.3.1 (previously 4.1.3.7)) is an enzyme that exists in nearly all living cells. It functions as a pace-making enzyme in the first step of the citric acid cycle (or Krebs cycle). [5] Citrate synthase is located within eukaryotic cells in the mitochondrial matrix, but is encoded by nuclear DNA rather than
9973 12460 Ensembl ENSG00000173992 ENSMUSG00000034108 UniProt O14618 Q9WU84 RefSeq (mRNA) NM_005125 NM_016892 RefSeq (protein) NP_005116 NP_058588 Location (UCSC) Chr 11: 66.59 – 66.61 Mb Chr 19: 4.88 – 4.89 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Copper chaperone for superoxide dismutase is a metalloprotein that is responsible for the delivery of Cu to superoxide ...
Cockayne syndrome (CS), also called Neill-Dingwall syndrome, is a rare and fatal autosomal recessive neurodegenerative disorder characterized by growth failure, impaired development of the nervous system, abnormal sensitivity to sunlight (photosensitivity), eye disorders and premature aging.
ATP citrate synthase (also ATP citrate lyase (ACLY)) is an enzyme that in animals catalyzes an important step in fatty acid biosynthesis. [2] By converting citrate to acetyl-CoA , the enzyme links carbohydrate metabolism , which yields citrate as an intermediate , with fatty acid biosynthesis , which consumes acetyl-CoA. [ 3 ]
The CS cells are abnormally sensitive to ultraviolet radiation and are defective in the repair of transcriptionally active genes. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [6] CS arises from germline mutations in either of two genes CSA(ERCC8) or CSB.
There are three polymorphisms in the promoter region of the gene, resulting in two common variants. [92] Several single nucleotide polymorphisms have been associated with altered cystatin C levels. [93] Cystatin C is a non-glycosylated, basic protein (isoelectric point at pH 9.3).
The 2025 Academy Awards were held in Los Angeles on Sunday night. Though there were many well-dressed stars, a few others missed the mark. Elle Fanning's gown was underwhelming, and Joe Locke wore ...
Gene nomenclature is the scientific naming of genes, ... cs = cold sensitive (leuA cs) am = amber mutation (leuA am) um = umber (opal) mutation ...