GCLM
Description
The GCLM (glutamate-cysteine ligase modifier subunit) is a protein-coding gene located on chromosome 1.
Glutamate-cysteine ligase regulatory subunit is an enzyme that in humans is encoded by the GCLM gene. Glutamate-cysteine ligase, also known as gamma-glutamylcysteine synthetase, is the first rate limiting enzyme of glutathione synthesis. The enzyme consists of two subunits, a heavy catalytic subunit and a light regulatory subunit. Gamma glutamylcysteine synthetase deficiency has been implicated in some forms of hemolytic anemia.
The GCLM gene encodes the regulatory subunit of glutamate-cysteine ligase (GCL), also known as gamma-glutamylcysteine synthetase. This enzyme is the rate-limiting step in the synthesis of glutathione, a crucial antioxidant. The GCLM subunit is essential for the proper function of GCL, and its deficiency can lead to hemolytic anemia.
GCLM is also known as GLCLR.
Associated Diseases
- isolated congenital hypogonadotropic hypogonadism
- Perrault syndrome
- 46,XY complete gonadal dysgenesis
- familial hyperprolactinemia
- aromatase deficiency
- double uterus-hemivagina-renal agenesis syndrome
- 46,XX testicular disorder of sex development
- premature ovarian failure 18
- 46,XX ovotesticular disorder of sex development
- premature ovarian failure 7
- Perrault syndrome 2
