Gene: [02q3/CYP27A1] cytochrome P450, subfamily XXVIIA (steroid 27-hydroxylase), polypeptide 1; cerebrotendinous xanthomatosis (cerebral cholesterinosis; van Bogaert-Scherer-Epstein disease);


REF

MUT "Cali JJ &: JBC, 266, 7779-7783, 1991a
CLO,SEQ,LOC "Cali JJ, Russell DW: JBC, 266, 7774-7778, 1991b
PAT,REV "Dotti MT &: Am J Neuroradiol, 15, N9, 1721-1726, 1994
MUT "Kim KS &: J Lipid Res, 35, N6, 1031-1039, 1994
MUT "Leitersdorf E &: J Clin Invest, 91, 2488-2496, 1993

SWI

 SWISSPROT: Q02318

KEY

xen, neu, lip, ats, ster

CLA

coding, basic

LOC

02 q33-t

MIM

 MIM: 213700

EZN

 ENZYME: 1.14.?.?