Disease-gene associations mined from literature

Literature associating CH25H and lysosomal and lipase deficiency

CH25H [ENSP00000360918]

Cholesterol 25-monooxygenase; Catalyzes the formation of 25-hydroxycholesterol from cholesterol, leading to repress cholesterol biosynthetic enzymes. Plays a key role in cell positioning and movement in lymphoid tissues: 25-hydroxycholesterol is an intermediate in biosynthesis of 7-alpha,25-dihydroxycholesterol (7-alpha,25-OHC), an oxysterol that acts as a ligand for the G protein-coupled receptor GPR183/EBI2, a chemotactic receptor for a number of lymphoid cells. 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; Fatty acid hydroxylase domain containing

Synonyms:  CH25H,  CH25Hp,  hCH25H,  O95992,  O95992p ...

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