Harmonizome 3.0

steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)

This gene encodes a microsomal protein expressed at high levels in androgen-sensitive tissues such as the prostate. The encoded protein is active at acidic pH and is sensitive to the 4-azasteroid inhibitor finasteride. Deficiencies in this gene can result in male pseudohermaphroditism, specifically pseudovaginal perineoscrotal hypospadias (PPSH). [provided by RefSeq, Jul 2008]

steroid-5-alpha-reductase, alpha polypeptide 1 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 1)

Steroid 5-alpha-reductase (EC 1.3.99.5) catalyzes the conversion of testosterone into the more potent androgen, dihydrotestosterone (DHT). Also see SRD5A2 (MIM 607306).[supplied by OMIM, Mar 2008]

steroid-5-alpha-reductase, alpha polypeptide 1 pseudogene 1 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha pseudogene)

hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7

This gene encodes an enzyme which is involved in the initial stages of the synthesis of bile acids from cholesterol and a member of the short-chain dehydrogenase/reductase superfamily. The encoded protein is a membrane-associated endoplasmic reticulum protein which is active against 7-alpha hydrosylated sterol substrates. Mutations in this gene are associated with a congenital bile acid synthesis defect which leads to neonatal cholestasis, a form of progressive liver disease. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]

hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1

The protein encoded by this gene is an enzyme that catalyzes the oxidative conversion of delta-5-3-beta-hydroxysteroid precursors into delta-4-ketosteroids, which leads to the production of all classes of steroid hormones. The encoded protein also catalyzes the interconversion of 3-beta-hydroxy- and 3-keto-5-alpha-androstane steroids. [provided by RefSeq, Jun 2016]

hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2

The protein encoded by this gene is a bifunctional enzyme that catalyzes the oxidative conversion of delta(5)-ene-3-beta-hydroxy steroid, and the oxidative conversion of ketosteroids. It plays a crucial role in the biosynthesis of all classes of hormonal steroids. This gene is predominantly expressed in the adrenals and the gonads. Mutations in this gene are associated with 3-beta-hydroxysteroid dehydrogenase, type II, deficiency. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Oct 2009]

steroid 5 alpha-reductase 3

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. [provided by RefSeq, Mar 2011]

steroid sulfatase (microsomal), isozyme S

This gene encodes a multi-pass membrane protein that is localized to the endoplasmic reticulum. It belongs to the sulfatase family and hydrolyzes several 3-beta-hydroxysteroid sulfates, which serve as metabolic precursors for estrogens, androgens, and cholesterol. Mutations in this gene are associated with X-linked ichthyosis (XLI). Alternatively spliced transcript variants resulting from the use of different promoters have been described for this gene (PMID:17601726). [provided by RefSeq, Mar 2016]

nephrosis 2, idiopathic, steroid-resistant (podocin)

This gene encodes a protein that plays a role in the regulation of glomerular permeability. Mutations in this gene cause steroid-resistant nephrotic syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]

steroid receptor RNA activator 1

Both long non-coding and protein-coding RNAs are transcribed from this gene, and they represent alternatively spliced transcript variants. This gene was initially defined as a non-coding RNA, which is a coactivator for several nuclear receptors (NRs) and is associated with breast cancer. It has now been found that this gene is involved in the regulation of many NR and non-NR activities, including metabolism, adipogenesis and chromatin organization. The long non-coding RNA transcripts interact with a variety of proteins, including the protein encoded by this gene. The encoded protein acts as a transcriptional repressor by binding to the non-coding RNA. [provided by RefSeq, Mar 2012]

hydroxy-delta-5-steroid dehydrogenase, 3 beta, pseudogene 1

hydroxy-delta-5-steroid dehydrogenase, 3 beta, pseudogene 3

hydroxy-delta-5-steroid dehydrogenase, 3 beta, pseudogene 2

hydroxy-delta-5-steroid dehydrogenase, 3 beta, pseudogene 5

hydroxy-delta-5-steroid dehydrogenase, 3 beta, pseudogene 4

steroid sulfatase (microsomal) pseudogene 1

NAD(P) dependent steroid dehydrogenase-like

The protein encoded by this gene is localized in the endoplasmic reticulum and is involved in cholesterol biosynthesis. Mutations in this gene are associated with CHILD syndrome, which is a X-linked dominant disorder of lipid metabolism with disturbed cholesterol biosynthesis, and typically lethal in males. Alternatively spliced transcript variants with differing 5' UTR have been found for this gene. [provided by RefSeq, Jul 2008]

steroid 5 alpha-reductase 3 pseudogene 1

prostatic steroid binding protein 1

steroid receptor associated and regulated protein

Enables nuclear estrogen receptor binding activity. Involved in positive regulation of intracellular estrogen receptor signaling pathway. Located in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Mar 2025]

Allergic/atopic asthma related QTL 40

Allergic/atopic asthma related QTL 45

Allergic/atopic asthma related QTL 18

Allergic/atopic asthma related QTL 13

Allergic/atopic asthma related QTL 15

Allergic/atopic asthma related QTL 14

Allergic/atopic asthma related QTL 16

Allergic/atopic asthma related QTL 38

Allergic/atopic asthma related QTL 37

Allergic/atopic asthma related QTL 48

Allergic/atopic asthma related QTL 49

Asthma-related traits, susceptibility to, 8

Allergic/atopic asthma related QTL 42

Allergic/atopic asthma related QTL 43

Allergic/atopic asthma related QTL 47

Allergic/atopic asthma related QTL 44

Asthma and obesity susceptibility, chromosome 16p11 inversion related

Allergic/atopic asthma related QTL 9

Allergic/atopic asthma related QTL 8

Allergic/atopic asthma related QTL 7

Allergic/atopic asthma related QTL 6

Allergic/atopic asthma related QTL 1

Allergic/atopic asthma related QTL 3

Allergic/atopic asthma related QTL 2

Allergic/Atopic asthma related QTL 29

Allergic/atopic asthma related QTL 24

Allergic/atopic asthma related QTL 25

Allergic/atopic asthma related QTL 27

Allergic/atopic asthma related QTL 20

Allergic/atopic asthma related QTL 21

Allergic/atopic asthma related QTL 22

Allergic/Atopic asthma related QTL 41

Allergic/atopic asthma related QTL 46

Asthma-related traits, susceptibility to, 6

Asthma-related traits, susceptibility to, 4

Allergic/atopic asthma related QTL 25

Allergic/atopic asthma related QTL 5

Allergic/atopic asthma related QTL 54

Allergic/Atopic asthma related QTL 56

Allergic/atopic asthma related QTL 51

Allergic/atopic asthma related QTL 53

Allergic/atopic asthma related QTL 52

Allergic/atopic asthma related QTL 4

Allergic/atopic asthma related QTL 11

Allergic/atopic asthma related QTL 12

Allergic/atopic asthma related QTL 17

Allergic/atopic asthma related QTL 19

Allergic/atopic asthma related QTL 10

Asthma-related traits, susceptibility to, 3

Allergic/atopic asthma related QTL 50

Allergic/atopic asthma related QTL 39

Allergic/atopic asthma related QTL 36

Allergic/atopic asthma related QTL 35

Allergic/atopic asthma related QTL 34

Allergic/atopic asthma related QTL 33

Allergic/Atopic asthma related QTL 32

Allergic/atopic asthma related QTL 31

Allergic/atopic asthma related QTL 30

Allergic/atopic asthma related QTL 5

Allergic/Atopic asthma related QTL 28

Allergic/atopic asthma related QTL 23