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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 ]
A human sperm cell consists of a flat, disc shaped head approximately 5.1 by 3.1 μm (0.20 by 0.12 mils), and a tail, known as a flagellum 50 μm (2.0 mils) long. [4] The flagellum propels the sperm cell at about 1 to 3 millimetres per minute (0.66 to 1.97 mils per second) [ 5 ] .
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.
A Barr body (named after discoverer Murray Barr) [1] or X-chromatin is an inactive X chromosome. In species with XY sex-determination (including humans), females typically have two X chromosomes, [2] and one is rendered inactive in a process called lyonization. Errors in chromosome separation can also result in male and female individuals with ...
Any of a class of transferase enzymes which catalyze the covalent bonding of an acetyl group (–COCH 3) to another compound, protein, or biomolecule, a process known as acetylation. acrocentric (of a linear chromosome or chromosome fragment) Having a centromere positioned very close to one end of the chromosome, as opposed to at the end or in ...
For example, the locus of gene OCA1 may be written "11q1.4-q2.1", meaning it is on the long arm of chromosome 11, somewhere in the range from sub-band 4 of region 1 to sub-band 1 of region 2. [citation needed] The ends of a chromosome are labeled "pter" and "qter", and so "2qter" refers to the terminus of the long arm of chromosome 2. [citation ...
Ubiquitin carboxyl-terminal hydrolase or Ubiquitin specific protease 11 is an enzyme that in humans is encoded by the USP11 gene. [5] [6] USP11 belongs to the Ubiquitin specific proteases family (USPs) which is a sub-family of the Deubiquitinating enzymes (DUBs).USPs are multiple domain proteases and belong to the C19 cysteine proteases sub‒family.
Valosin-containing protein (VCP) or transitional endoplasmic reticulum ATPase (TER ATPase) also known as p97 in mammals and CDC48 in S. cerevisiae, is an enzyme that in humans is encoded by the VCP gene. [5] [6] [7] The TER ATPase is an ATPase enzyme present in all eukaryotes and archaebacteria.