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Findings suggest that 5alpha-reductases (5-AR) isoenzymes could be explored as a therapeutic target for urothelial bladder cancer (UBC) with 5alpha-reductase inhibitors (5-ARI).
We present the features of five individuals (three children and two adults) with mutations in SRD5A3 focusing on the variable eye and skin involvement
Although 4-dione is the main source of 5alpha-dihydrotestosterone in human preadipocytes, production of this steroid by 5 alpha-reductase isoenzymes (SRD5A1 (Montrer SRD5A1 Protéines), 2 and 3) mediates the inhibitory effect of both 4-dione and testosterone on preadipocyte differentiation.
Mutations in the SRD5A3 gene may cause early-onset retinal dystrophy (Montrer MERTK Protéines), a previously underdescribed feature of the SRD5A3-CDG disorder that is progressive and may lead to serious visual impairment.
the spectrum of phenotypes resulting from SRD5A3 mutations and the clinical variability of SRD5A3-CDG
Findings suggest that overexpression of 5alpha-reductase, through a higher inactivation of cortisol in the liver, could have a protective role in preserving hepatic sensitivity to insulin (Montrer INS Protéines).
Next generation sequencing identified a homozygous frameshift mutation (c.203dupC; p.Phe69LeufsX2) SRD5A3 as the disease-causing change in Kahrizi syndrome.
A novel syndrome is identified in families with cerebellar ataxia and congenital eye malformations due to steroid 5 alpha-reductase type 3 disorders of glycosylation.
Study of a large consanguineous Emirati family showed that loss of function mutations of the SRD5A3 gene cause a multisystemic syndrome with eye malformations, cerebellar vermis hypoplasia, and psychomotor delay.
Findings indicate that a novel type 3 5 alpha-steroid reductase, SRD5A3, is associated with DHT production and maintenance of androgen-androgen receptor (Montrer AR Protéines)-pathway activation in prostate cancer.
Srd5a3 mutation is lethal in mouse and results in an activation of the unfolded protein response pathway.
The protein encoded by this gene belongs to the steroid 5-alpha reductase family, and polyprenol reductase subfamily. It is involved in the production of androgen 5-alpha-dihydrotestosterone (DHT) from testosterone, and maintenance of the androgen-androgen receptor activation pathway. This protein is also necessary for the conversion of polyprenol into dolichol, which is required for the synthesis of dolichol-linked monosaccharides and the oligosaccharide precursor used for N-linked glycosylation of proteins. Mutations in this gene are associated with congenital disorder of glycosylation type Iq.
3-oxo-5-alpha-steroid 4-dehydrogenase 3
, S5AR 3
, SR type 3
, polyprenol reductase
, probable polyprenol reductase
, steroid 5 alpha-reductase 2 like
, steroid 5 alpha-reductase 2-like; H5AR gene; steroid 5 alpha-reductase 2 like
, steroid 5-alpha-reductase 3
, Probable polyprenol reductase
, Steroid 5-alpha-reductase 3