Enzymes
| UniProtKB help_outline | 4 proteins |
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- Name help_outline 4α-carboxy-5α-cholest-8-ene-3β-ol Identifier CHEBI:87055 Charge -1 Formula C28H45O3 InChIKeyhelp_outline RODBXVVNKJCWQR-GSQAGGHASA-M SMILEShelp_outline CC(C)CCC[C@@H](C)[C@H]1CC[C@H]2C3=C(CC[C@]12C)[C@@]1(C)CC[C@H](O)[C@H]([C@@H]1CC3)C([O-])=O 2D coordinates Mol file for the small molecule Search links Involved in 4 reaction(s) Find molecules that contain or resemble this structure Find proteins in UniProtKB for this molecule
- Name help_outline NAD+ Identifier CHEBI:57540 (Beilstein: 3868403) help_outline Charge -1 Formula C21H26N7O14P2 InChIKeyhelp_outline BAWFJGJZGIEFAR-NNYOXOHSSA-M SMILEShelp_outline NC(=O)c1ccc[n+](c1)[C@@H]1O[C@H](COP([O-])(=O)OP([O-])(=O)OC[C@H]2O[C@H]([C@H](O)[C@@H]2O)n2cnc3c(N)ncnc23)[C@@H](O)[C@H]1O 2D coordinates Mol file for the small molecule Search links Involved in 1,142 reaction(s) Find molecules that contain or resemble this structure Find proteins in UniProtKB for this molecule
- Name help_outline 5α-cholest-8-en-3-one Identifier CHEBI:87056 Charge 0 Formula C27H44O InChIKeyhelp_outline RZSXSHNNQBIPTL-ZSBATXSLSA-N SMILEShelp_outline CC(C)CCC[C@@H](C)[C@H]1CC[C@H]2C3=C(CC[C@]12C)[C@@]1(C)CCC(=O)C[C@@H]1CC3 2D coordinates Mol file for the small molecule Search links Involved in 3 reaction(s) Find molecules that contain or resemble this structure Find proteins in UniProtKB for this molecule
- Name help_outline CO2 Identifier CHEBI:16526 (Beilstein: 1900390; CAS: 124-38-9) help_outline Charge 0 Formula CO2 InChIKeyhelp_outline CURLTUGMZLYLDI-UHFFFAOYSA-N SMILEShelp_outline O=C=O 2D coordinates Mol file for the small molecule Search links Involved in 980 reaction(s) Find molecules that contain or resemble this structure Find proteins in UniProtKB for this molecule
- Name help_outline NADH Identifier CHEBI:57945 (Beilstein: 3869564) help_outline Charge -2 Formula C21H27N7O14P2 InChIKeyhelp_outline BOPGDPNILDQYTO-NNYOXOHSSA-L SMILEShelp_outline NC(=O)C1=CN(C=CC1)[C@@H]1O[C@H](COP([O-])(=O)OP([O-])(=O)OC[C@H]2O[C@H]([C@H](O)[C@@H]2O)n2cnc3c(N)ncnc23)[C@@H](O)[C@H]1O 2D coordinates Mol file for the small molecule Search links Involved in 1,073 reaction(s) Find molecules that contain or resemble this structure Find proteins in UniProtKB for this molecule
Cross-references
| RHEA:47172 | RHEA:47173 | RHEA:47174 | RHEA:47175 | |
|---|---|---|---|---|
| Reaction direction help_outline | undefined | left-to-right | right-to-left | bidirectional |
| UniProtKB help_outline |
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Publications
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The gene mutated in bare patches and striated mice encodes a novel 3beta-hydroxysteroid dehydrogenase.
Liu X.Y., Dangel A.W., Kelley R.I., Zhao W., Denny P., Botcherby M., Cattanach B., Peters J., Hunsicker P.R., Mallon A.-M., Strivens M.A., Bate R., Miller W., Rhodes M., Brown S.D.M., Herman G.E.
X-linked dominant disorders that are exclusively lethal prenatally in hemizygous males have been described in human and mouse. None of the genes responsible has been isolated in either species. The bare patches (Bpa) and striated (Str) mouse mutations were originally identified in female offspring ... >> More
X-linked dominant disorders that are exclusively lethal prenatally in hemizygous males have been described in human and mouse. None of the genes responsible has been isolated in either species. The bare patches (Bpa) and striated (Str) mouse mutations were originally identified in female offspring of X-irradiated males. Subsequently, additional independent alleles were described. We have previously mapped these X-linked dominant, male-lethal mutations to an overlapping region of 600 kb that is homologous to human Xq28 (ref. 4) and identified several candidate genes in this interval. Here we report mutations in one of these genes, Nsdhl, encoding an NAD(P)H steroid dehydrogenase-like protein, in two independent Bpa and three independent Str alleles. Quantitative analysis of sterols from tissues of affected Bpa mice support a role for Nsdhl in cholesterol biosynthesis. Our results demonstrate that Bpa and Str are allelic mutations and identify the first mammalian locus associated with an X-linked dominant, male-lethal phenotype. They also expand the spectrum of phenotypes associated with abnormalities of cholesterol metabolism. << Less
Nat. Genet. 22:182-187(1999) [PubMed] [EuropePMC]
This publication is cited by 5 other entries.
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Investigation of the component reactions of oxidative sterol demethylation. Oxidation of a 4,4-dimethyl sterol to a 4 beta-methyl-4 alpha-carboxylic acid during cholesterol biosynthesis.
Miller W.L., Gaylor J.L.
J. Biol. Chem. 245:5375-5381(1970) [PubMed] [EuropePMC]
This publication is cited by 3 other entries.
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Partial purification of a microsomal sterol 4 -carboxylic acid decarboxylase.
Rahimtula A.D., Gaylor J.L.
J Biol Chem 247:9-15(1972) [PubMed] [EuropePMC]
This publication is cited by 5 other entries.