Gene: [04q24/MTP] microsomal triglyceride transfer protein, large polypeptide (88kD); abetalipoproteinemia (acanthocytosis; MIM:200100);
FUN | The MTP protein catalyzes the transport of triglyceride, cholesteryl ester, and phospholipid between phospholipid surfaces." |
MOP | The MTP is a heterodimer composed of the multifunctional protein, protein disulfide isomerase (GEM:10q2/P4HA, GEM:17q25/P4HB), and a unique large subunit with an apparent molecular weight of 88 kD (Wetterau-1990)." |
REL | GEM:02p2/APOB |
REF | MUT "Hagan DL &: JBC,
269, 28737-28744, 1994 PRO,LOC "Narcisi TME &: AJHG, 57, 1298-1310, 1995 LOC "Ricci B &: JBC, 270, 14281-14285, 1995 COD,MUT "Sharp D &: Biochemistry, 33, 9057-9061, 1994 PAT,MUT "Shoulders CC &: Hum Mol Genet, 2, 2109-2116, 1993 FUN,MOP,FAG "Wetterau JR &: JBC, 265, 9800-9807, 1990 |
SWI | SWISSPROT: P55157 |
KEY | lip, ats |
CLA | coding, basic |
LOC | 04 q24 |
MIM | MIM: 157147 |
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