HSD3B2
Encyclopedia
HSD3B2 is a human gene
that encodes for 3beta-hydroxysteroid dehydrogenase/delta(5)-delta(4)isomerase
type II or hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2. It is principally expressed in steroidogenic tissues and is essential for steroid hormone
production. A notable exception is the placenta
where HSD3B1
is critical for progesterone
production by this tissue.
Mutations in the HSD3B2 gene result in the condition congenital adrenal hyperplasia due to 3 beta-hydroxysteroid dehydrogenase deficiency
.
Gene
A gene is a molecular unit of heredity of a living organism. It is a name given to some stretches of DNA and RNA that code for a type of protein or for an RNA chain that has a function in the organism. Living beings depend on genes, as they specify all proteins and functional RNA chains...
that encodes for 3beta-hydroxysteroid dehydrogenase/delta(5)-delta(4)isomerase
3-beta-HSD
3-β-HSD is an enzyme that catalyses the synthesis of progesterone from pregnenolone, 17-hydroxyprogesterone from 17-hydroxypregnenolone, and androstenedione from dehydroepiandrosterone in the adrenal gland...
type II or hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2. It is principally expressed in steroidogenic tissues and is essential for steroid hormone
Steroid hormone
A steroid hormone is a steroid that acts as a hormone. Steroid hormones can be grouped into five groups by the receptors to which they bind: glucocorticoids, mineralocorticoids, androgens, estrogens, and progestogens...
production. A notable exception is the placenta
Placenta
The placenta is an organ that connects the developing fetus to the uterine wall to allow nutrient uptake, waste elimination, and gas exchange via the mother's blood supply. "True" placentas are a defining characteristic of eutherian or "placental" mammals, but are also found in some snakes and...
where HSD3B1
HSD3B1
HSD3B1 is a human gene that encodes for a 3beta-hydroxysteroid dehydrogenase/delta-deltaisomerase type I or hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1. While it can carry out the same function as HSD3B2, it primarily localizes to different tissues, such as the...
is critical for progesterone
Progesterone
Progesterone also known as P4 is a C-21 steroid hormone involved in the female menstrual cycle, pregnancy and embryogenesis of humans and other species...
production by this tissue.
Mutations in the HSD3B2 gene result in the condition congenital adrenal hyperplasia due to 3 beta-hydroxysteroid dehydrogenase deficiency
Congenital adrenal hyperplasia due to 3 beta-hydroxysteroid dehydrogenase deficiency
3β-Hydroxysteroid dehydrogenase II deficient congenital adrenal hyperplasia is an uncommon form of CAH resulting from a mutation in the gene for one of the key enzymes in cortisol synthesis by the adrenal gland, 3β-hydroxysteroid dehydrogenase type II...
.