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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]
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.
There are two distinctive mapping approaches used in the field of genome mapping: genetic maps (also known as linkage maps) [7] and physical maps. [3] While both maps are a collection of genetic markers and gene loci, [8] genetic maps' distances are based on the genetic linkage information, while physical maps use actual physical distances usually measured in number of base pairs.
COX4I1 is located on the q arm of chromosome 16 in position 24.1 and has 6 exons. [5] The COX4I1 gene produces a 9.3 kDa protein composed of 83 amino acids. [11] [12] COX4I1 is expressed ubiquitously. The protein encoded by COX4I1 belongs to the cytochrome c oxidase IV family.
β-Glucocerebrosidase (also called acid β-glucosidase, D-glucosyl-N-acylsphingosine glucohydrolase, or GCase) is an enzyme with glucosylceramidase activity (EC 3.2.1.45) that cleaves by hydrolysis the β-glycosidic linkage of the chemical glucocerebroside, an intermediate in glycolipid metabolism that is abundant in cell membranes (particularly skin cells). [5]
Delta-aminolevulinate synthase 1 also known as ALAS1 is a protein that in humans is encoded by the ALAS1 gene. [ 5 ] [ 6 ] ALAS1 is an aminolevulinic acid synthase . Delta-aminolevulinate synthase catalyzes the condensation of glycine with succinyl-CoA to form delta-aminolevulinic acid .
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 ]
Lysine-specific demethylase 6A also known as Ubiquitously transcribed tetratricopeptide repeat, X chromosome (UTX), is a protein which in humans is encoded by the KDM6A gene. [ 5 ] [ 6 ] [ 7 ] It belongs to the 2-oxoglutarate (2OG)-dependent dioxygenase superfamily.