TEMPLATE
CATEGORY
NAME
TAG
USE
L
Defects in GCLC are the cau
L
Reproductive function
L
Liver function test
H
associated with blood clottin SLC4A1 defects = spherocyt to chronic hemolytic anemia
OCCURS: 2 Blood Works™
Activator
Blood Works™
Hormone
Blood Works™
Gene
Blood Works™
Genome
Blood Works™
Activator
Glutamate cysteine ligase, catalytic subunit Gonadotropic releasing hormone Gamma-glutamyl transpeptidase Protein C Solute carrier family 4, anion exchanger, member 1
H
TECHNICIAN NOTES: Glutamate Cysteine Ligase (GCL), previously known as gamma-glutamylcysteine synthetase (GCS), is the first enzyme of the cellular glutathione (GSH) biosynthetic pathway that catalyzes the chemical reaction: L-glutamate + L-cysteine + ATP ßàgamma-glutamyl cysteine + ADP + Pi GSH, and by extension GCL, is critical to cell survival. Nearly every eukaryotic cell, from plants to yeast to humans, expresses a form of the GCL protein for the purpose of synthesizing GSH (Glutathione). To further highlight the critical nature of this enzyme, genetic knockdown of GCL results in embryonic lethality. Furthermore, dysregulation of GCL enzymatic function and activity is known to be involved in the vast majority of human diseases, such as diabetes, Parkinson's disease, Alzheimers disease, COPD, HIV/AIDS, and cancer. This typically involves impaired function leading to decreased GSH biosynthesis, reduced cellular antioxidant capacity, and the induction of oxidative stress. However, in cancer, GCL expression and activity is enhanced, which serves to both support the high level of cell proliferation and confer resistance to many chemotherapeutic agents. https://en.wikipedia.org/wiki/Glutamate%E2%80%93cysteine_ligase Gonadotropin-releasing hormone Gonadotropin-releasing hormone (GnRH) insensitivity is a rare autosomal recessive genetic and endocrine syndrome which is characterized by inactivating mutations of the gonadotropin-releasing hormone receptor (GnRHR) and thus an insensitivity of the receptor