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PRPF19 | PRP19/PSO4 pre-mRNA processing factor 19 homolog (S. cerevisiae); Plays a role in DNA double-strand break (DSB) repair. Binds double-stranded DNA in a sequence-nonspecific manner. Acts as a structural component of the nuclear framework. May also serve as a support for spliceosome binding and activity. Essential for spliceosome assembly in a oligomerization-dependent manner and might also be important for spliceosome stability. May have E3 ubiquitin ligase activity. The PSO4 complex is required in the DNA interstrand cross-links (ICLs) repair process. Component of the PRP19-CDC5L comple [...] (504 aa) | |||
HSD17B7 | hydroxysteroid (17-beta) dehydrogenase 7; Responsible for the reduction of the keto group on the C-3 of sterols (341 aa) | |||
CYP27A1 | cytochrome P450, family 27, subfamily A, polypeptide 1; Catalyzes the first step in the oxidation of the side chain of sterol intermediates; the 27-hydroxylation of 5-beta- cholestane-3-alpha,7-alpha,12-alpha-triol. Has also a vitamin D3- 25-hydroxylase activity (531 aa) | |||
MSMO1 | methylsterol monooxygenase 1 (293 aa) | |||
CYP46A1 | cytochrome P450, family 46, subfamily A, polypeptide 1; Involved in the turnover of cholesterol. It converts cholesterol into 24S-hydroxycholesterol and, to a lesser extent, 25-hydroxycholesterol. Has also activity with xenobiotic compounds, such as clotrimazole (500 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) | |||
TM7SF2 | transmembrane 7 superfamily member 2; Involved in the conversion of lanosterol to cholesterol (418 aa) | |||
DIP2C | DIP2 disco-interacting protein 2 homolog C (Drosophila) (1556 aa) | |||
ACSF2 | acyl-CoA synthetase family member 2; Acyl-CoA synthases catalyze the initial reaction in fatty acid metabolism, by forming a thioester with CoA. Has some preference toward medium-chain substrates. Plays a role in adipodyte differentiation (615 aa) | |||
DIP2B | DIP2 disco-interacting protein 2 homolog B (Drosophila) (1576 aa) | |||
SOAT2 | sterol O-acyltransferase 2; Plays a role in lipoprotein assembly and dietary cholesterol absorption. In addition to its acyltransferase activity, it may act as a ligase. May provide cholesteryl esters for lipoprotein secretion from hepatocytes and intestinal mucosa (522 aa) | |||
CHDH | choline dehydrogenase (594 aa) | |||
C5orf4 | chromosome 5 open reading frame 4 (333 aa) | |||
ACSF3 | acyl-CoA synthetase family member 3; Catalyzes the initial reaction in intramitochondrial fatty acid synthesis, by activating malonate and methylmalonate, but not acetate, into their respective CoA thioester. May have some preference toward very-long-chain substrates (576 aa) | |||
COQ6 | coenzyme Q6 homolog, monooxygenase (S. cerevisiae) (468 aa) | |||
CDK5RAP3 | CDK5 regulatory subunit associated protein 3; Potential regulator of CDK5 activity. May be involved in cell proliferation. Regulates CDK5 activity via its interaction with CDK5R1 (By similarity) (506 aa) | |||
DHCR7 | 7-dehydrocholesterol reductase; Production of cholesterol by reduction of C7-C8 double bond of 7-dehydrocholesterol (7-DHC) (475 aa) | |||
LSS | lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase); Catalyzes the cyclization of (S)-2,3 oxidosqualene to lanosterol, a reaction that forms the sterol nucleus (732 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) | |||
SOAT1 | sterol O-acyltransferase 1; Catalyzes the formation of fatty acid-cholesterol esters. Plays a role in lipoprotein assembly and dietary cholesterol absorption. In addition to its acyltransferase activity, it may act as a ligase (550 aa) | |||
DHCR24 | 24-dehydrocholesterol reductase; Catalyzes the reduction of the delta-24 double bond of sterol intermediates. Protects cells from oxidative stress by reducing caspase 3 activity during apoptosis induced by oxidative stress. Also protects against amyloid-beta peptide-induced apoptosis (516 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) | |||
CEL | carboxyl ester lipase (bile salt-stimulated lipase); Catalyzes fat and vitamin absorption. Acts in concert with pancreatic lipase and colipase for the complete digestion of dietary triglycerides (756 aa) | |||
DIP2A | DIP2 disco-interacting protein 2 homolog A (Drosophila); May provide positional cues for axon pathfinding and patterning in the central nervous system (1571 aa) | |||
B2M | beta-2-microglobulin; Component of the class I major histocompatibility complex (MHC). Involved in the presentation of peptide antigens to the immune system (By similarity) (119 aa) |