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Males with Klinefelter syndrome typically have one extra copy of the X chromosome in each cell, for a total of two X chromosomes and one Y chromosome (47,XXY). It is less common for affected males to have two or three extra X chromosomes (48,XXXY or 49,XXXXY) or extra copies of both the X and Y chromosomes (48,XXYY) in each cell.
3' untranslated region (3'-UTR). Also three-prime untranslated region, 3' non-translated region (3'-NTR), and trailer sequence.. 3'-end. Also three-prime end.. One of two ends of a single linear strand of DNA or RNA, specifically the end at which the chain of nucleotides terminates at the third carbon atom in the furanose ring of deoxyribose or ribose (i.e. the terminus at which the 3' carbon ...
The red blood cell form is coded by a gene on chromosome X, whereas the other form is coded by a gene on chromosome 3. The disease X-linked sideroblastic anemia is caused by mutations in the ALA synthase gene on chromosome X, whereas no diseases are known to be caused by mutations in the other gene. Gain of function mutations in the erythroid ...
(1) Chromatid – one of the two identical parts of the chromosome after S phase. (2) Centromere – the point where the two chromatids touch, and where the microtubules attach. (3) Short arm (p). (4) Long arm (q). Several chromosome regions have been defined by convenience and convention in order to talk about gene loci.
This helicase is located on the X chromosome (Xq13.1-q21.1), in the pericentromeric heterochromatin and binds to heterochromatin protein 1. [ 31 ] [ 33 ] Studies have shown that ATRX plays a role in rDNA methylation and is essential for embryonic development. [ 35 ]
The antioxidant enzyme glutathione peroxidase 4 (GPX4) belongs to the family of glutathione peroxidases, which consists of 8 known mammalian isoenzymes (GPX1–8).GPX4 catalyzes the reduction of hydrogen peroxide, organic hydroperoxides, and lipid peroxides at the expense of reduced glutathione and functions in the protection of cells against oxidative stress.
Cysteine protease ATG4A is an enzyme that in humans is encoded by the ATG4A gene. [5] [6] Autophagy is the process by which endogenous proteins and damaged organelles are destroyed intracellularly. Autophagy is postulated to be essential for cell homeostasis and cell remodelling during differentiation, metamorphosis, non-apoptotic cell death ...
Deoxyribonuclease-1-like 1 is an enzyme that in humans is encoded by the DNASE1L1 gene. [ 5 ] [ 6 ] [ 7 ] It is also known as DNaseX due to its localisation on the X chromosome . [ 8 ]