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CYP51A1 | cytochrome P450, family 51, subfamily A, polypeptide 1 (509 aa) | |||
PTGIS | prostaglandin I2 (prostacyclin) synthase; Catalyzes the isomerization of prostaglandin H2 to prostacyclin (= prostaglandin I2) (500 aa) | |||
C14orf1 | chromosome 14 open reading frame 1 (140 aa) | |||
MSMO1 | methylsterol monooxygenase 1 (293 aa) | |||
ACAT1 | acetyl-CoA acetyltransferase 1; Plays a major role in ketone body metabolism (427 aa) | |||
SQLE | squalene epoxidase; Catalyzes the first oxygenation step in sterol biosynthesis and is suggested to be one of the rate-limiting enzymes in this pathway (574 aa) | |||
LBR | lamin B receptor; Anchors the lamina and the heterochromatin to the inner nuclear membrane (615 aa) | |||
CYP39A1 | cytochrome P450, family 39, subfamily A, polypeptide 1; Involved in the bile acid metabolism. Has a preference for 24-hydroxycholesterol, and converts it into a 7-alpha- hydroxylated product (469 aa) | |||
SIGMAR1 | sigma non-opioid intracellular receptor 1 (223 aa) | |||
TM7SF2 | transmembrane 7 superfamily member 2; Involved in the conversion of lanosterol to cholesterol (418 aa) | |||
HSD3B7 | hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7; The 3-beta-HSD enzymatic system plays a crucial role in the biosynthesis of all classes of hormonal steroids. HSD VII is active against four 7-alpha-hydroxylated sterols. Does not metabolize several different C(19/21) steroids as substrates. Involved in bile acid synthesis (369 aa) | |||
CYP7A1 | cytochrome P450, family 7, subfamily A, polypeptide 1; Catalyzes a rate-limiting step in cholesterol catabolism and bile acid biosynthesis by introducing a hydrophilic moiety at position 7 of cholesterol. Important for cholesterol homeostasis (504 aa) | |||
CYP7B1 | cytochrome P450, family 7, subfamily B, polypeptide 1 (506 aa) | |||
CYP8B1 | cytochrome P450, family 8, subfamily B, polypeptide 1; Involved in bile acid synthesis and is responsible for the conversion of 7 alpha-hydroxy-4-cholesten-3-one into 7 alpha, 12 alpha-dihydroxy-4-cholesten-3-one. Responsible for the balance between formation of cholic acid and chenodeoxycholic acid. Has a rather broad substrate specificity including a number of 7-alpha- hydroxylated C27 steroids (501 aa) | |||
C5orf4 | chromosome 5 open reading frame 4 (333 aa) | |||
SDR42E2 | short chain dehydrogenase/reductase family 42E, member 2 (155 aa) | |||
SDR42E1 | short chain dehydrogenase/reductase family 42E, member 1 (393 aa) | |||
COQ6 | coenzyme Q6 homolog, monooxygenase (S. cerevisiae) (468 aa) | |||
AK2 | adenylate kinase 2 (239 aa) | |||
DHCR7 | 7-dehydrocholesterol reductase; Production of cholesterol by reduction of C7-C8 double bond of 7-dehydrocholesterol (7-DHC) (475 aa) | |||
ANK2 | ankyrin 2, neuronal; In skeletal muscle, required for proper localization of DMD and DCTN4 and for the formation and/or stability of a special subset of microtubules associated with costameres and neuromuscular junctions (By similarity). Attaches integral membrane proteins to cytoskeletal elements. Also binds to cytoskeletal proteins. Required for coordinate assembly of Na/Ca exchanger, Na/K ATPase and InsP3 receptor at sarcoplasmic reticulum sites in cardiomyocytes. Required for the coordinated expression of the Na/K ATPase, Na/Ca exchanger and beta-2-spectrin (SPTBN1) in the inner se [...] (3957 aa) | |||
KMO | kynurenine 3-monooxygenase (kynurenine 3-hydroxylase); Catalyzes the hydroxylation of L-kynurenine (L-Kyn) to form 3-hydroxy-L-kynurenine (L-3OHKyn). Required for synthesis of quinolinic acid, a neurotoxic NMDA receptor antagonist and potential endogenous inhibitor of NMDA receptor signaling in axonal targeting, synaptogenesis and apoptosis during brain development. Quinolinic acid may also affect NMDA receptor signaling in pancreatic beta cells, osteoblasts, myocardial cells, and the gastrointestinal tract (By similarity) (486 aa) | |||
HSD3B1 | hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1; 3-beta-HSD is a bifunctional enzyme, that catalyzes the oxidative conversion of Delta(5)-ene-3-beta-hydroxy steroid, and the oxidative conversion of ketosteroids. The 3-beta-HSD enzymatic system plays a crucial role in the biosynthesis of all classes of hormonal steroids. Efficiently catalyzes the transformation of pregnenolone to progesterone, 17-alpha-hydroxypregnenolone to 17- alpha-hydroxyprogesterone, DHEA to 4-androstenedione, dihydrotestosterone to 5-alpha-androstane-3 beta,17 beta-diol, dehydroepiandr [...] (373 aa) | |||
HSD3B2 | hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2; 3-beta-HSD is a bifunctional enzyme, that catalyzes the oxidative conversion of Delta(5)-ene-3-beta-hydroxy steroid, and the oxidative conversion of ketosteroids. The 3-beta-HSD enzymatic system plays a crucial role in the biosynthesis of all classes of hormonal steroids (372 aa) | |||
NSDHL | NAD(P) dependent steroid dehydrogenase-like (373 aa) | |||
CH25H | cholesterol 25-hydroxylase; Catalyzes the formation of 25-hydroxycholesterol from cholesterol, leading to repress cholesterol biosynthetic enzymes. May play an important role in regulating lipid metabolism by synthesizing a corepressor that blocks sterol regulatory element binding protein (SREBP) processing. In testis, production of 25- hydroxycholesterol by macrophages may play a role in Leydig cell differentiation (272 aa) |