Search results
Results From The WOW.Com Content Network
Homocystinuria (HCU) [2] is an inherited disorder of the metabolism of the amino acid methionine due to a deficiency of cystathionine beta synthase or methionine synthase. [3] It is an inherited autosomal recessive trait, which means a child needs to inherit a copy of the defective gene from both parents to be affected. Symptoms of ...
Cystathionine beta synthase (CBS) is involved in oocyte development. However, little is known about the regional and cellular expression patterns of CBS in the ovary and research is now focused on determining the location and expression during follicle development in the ovaries.
It is characterized by an abnormal accumulation of plasma cystathionine leading to excess cystathionine in the urine. Hereditary cystathioninuria is associated with the reduced activity of the enzyme cystathionine gamma-lyase. [2] It is considered a biochemical anomaly. This is because it associated with a wide range of diseases and its ...
In molecular biology, the CBS domain is a protein domain found in a range of proteins in all species from bacteria to humans. It was first identified as a conserved sequence region in 1997 and named after cystathionine beta synthase, one of the proteins it is found in. [2] CBS domains are also found in a wide variety of other proteins such as inosine monophosphate dehydrogenase, [3] voltage ...
Other symptoms of PCOS can include: Irregular menstrual cycles. Heavy or long periods. Excess hair growth (hirsutism) Skin changes and acne. Higher body mass index , obesity and difficulty losing ...
Polycystic ovary syndrome, or polycystic ovarian syndrome (PCOS), is the most common endocrine disorder in women of reproductive age. [14] The syndrome is named after cysts which form on the ovaries of some women with this condition, though this is not a universal symptom and not the underlying cause of the disorder.
Cystathionine is an intermediate in the synthesis of cysteine from homocysteine. It is produced by the transsulfuration pathway and is converted into cysteine by cystathionine gamma-lyase (CTH). Biosynthetically, cystathionine is generated from homocysteine and serine by cystathionine beta synthase (upper reaction in the diagram below).
Cystathionine beta-lyase (EC 4.4.1.8), also commonly referred to as CBL or β-cystathionase, is an enzyme that primarily catalyzes the following α,β-elimination reaction [1] Reaction catalyzed by cystathionine beta-lyase. Thus, the substrate of this enzyme is L-cystathionine, whereas its 3 products are homocysteine, pyruvate, and ammonia. [2 ...