Gene: [17p112/SREBF1] sterol regulatory element binding transcription factor 1;


COM

Sterol regulatory element is a decamer 5'-ATCACCCCAC-3'.

FUN

SREBF1 is a basic-helix-loop-helix-leucine zipper protein that controls transcription of the low density lipoprotein receptor (GEM:19p132/LDLR) and 3-hydroxy-3-methylglutaryl-CoA synthase (see GEM:05p1/HMGCS1)."

REL

GEM:22q13/SREBF2.

REF

LOC "Hua X &: Genomics, 25, 667-673, 1995
FUN "Wang X &: Cell, 77, N1, 53-62, 1994
CLO,SEQ,STR "Yokoyama C &: Cell, 75, 187-197, 1993

SWI

SWISSPROT: P36956

KEY

trc

CLA

coding, basic

LOC

17 p11.2

MIM

MIM: 184756

鸯铗痂蝈 蜞赕:

  • Gene: [18q11/NPC1] intracellular cholesterol transport regulator?; Niemann-Pick disease, type C1 (major form); [NPC ]