Gene: [16q221/LCAT] lecithin-cholesterol acyltransferase; Norum disease (lecithin-cholesterol acyltransferase deficiency); fish-eye disease (dyslipoproteinemic corneal dystrophy; alpha-lecithin-cholesterol acyltransferase deficiency; MIM:136120);
HET | Two diseases are determined by deficiency of lecithin-cholesterol acyltransferase (LCAT): alpha-LCAT, which is specific for high density lipoproteins, and beta-LCAT which is specific for low and very low density lipoproteins." |
GEN | The gene length is 4.5 kb. Exons: 6; introns: 5; the 3'-flanking region contains four Alu-repeats; mRNA is 1.55 kb; the mature protein consists of 416 amino acid residues." |
LIN | See GEM:16q221/CTRL[:LIN]. |
REF | PAT,MEB,PHE "Albers &:
Hum Genet, 62, 82-85, 1982 PAT,MEB,PHE "Albers &: Hum Genet, 58, 306-309, 1981a PAT,MEB,PHE "Albers, Utermann: AJHG, 33, 702-708, 1981b LOC,MOL "Azoulay &: Ann Hum Genet, 51, 129-136, 1987 LOC,MOL "Azoulay &: CCG, 40, (HGM8), 573, 1985 PAT,MEB,PHE "Borysiewicz &: Quart J Med, 51, 411-426, 1982 MUT "Bujo H &: BBRC, 181, 933-940, 1991 LIN,MAP,MOL "Callen &: Genomics, 2, 144-153, 1988 LOC,MOL "Callen &: CCG, 46, (HGM9), 589, 1987 COM,PAT "Carlson LA, Holmquist: Acta Med Scand, 218, 189-196, 1985a COM,PAT "Carlson LA, Holmquist: Acta Med Scand, 218, 197-205, 1985b COM,PAT "Carlson LA: Eur J Clin Invest, 12, 41-52, 1982 COM,PAT "Carlson LA, Philipson: Lancet, 2, 922-924, 1979a COM,PAT "Carlson LA, Philipson: Lancet, 2, 1376-1377, 1979b PAT,MEB,PHE "Frohlich &: Clin Biochem, 15, 269-278, 1982 MUT,HET "Funke H &: J Clin Invest, 91, 677-683, 1993 MUT "Funke H &: PNAS, 88, 4855-4859, 1991 HIS,PHE,FOG "Gjone E: Scand J Clin Lab Invest, 33, (Suppl), 73-82, 1974 HIS,PHE,FOG "Gjone E, Norum: Acta Med Scand, 183, 107-112, 1968 MUT,EXP "Gotoda T &: Lancet, 338, 778-781, 1991 COM,PAT "Holmquist, Carlson: Acta Med Scand, 222, 15-21, 1987a COM,PAT "Holmquist, Carlson: Acta Med Scand, 222, 23-26, 1987b GEN,MUT,MOL "Humphries SE &: Clin Sci, 74, 91-96, 1988 MUT "Klein H-G &: J Clin Invest, 92, 479-485, 1993 MUT "Klein H-G &: J Clin Invest, 89, 499-506, 1992 MUT "Kuivenhoven JA &: J Clin Invest, 98, 358-364, 1996 LOC,LIN,FAG "Larsen F &: Hum Mol Genet, 2, 1589-1595, 1993 COM,PAT "Lusis AJ: J Lipid Res, 29, 397-429, 1988 PRO,GEN,SEQ,EXP,MOP "McLean J &: NAR, 14, N23, 9397-9406, 1986a PRO,SEQ,EXP "McLean J &: PNAS, 83, N8, 2335-2339, 1986b HIS,PHE,FOG "Nordoy, Gjone: Scand J Clin Lab Invest, 27, 263-268, 1971 HIS,PHE,FOG "Norum, Gjone: Scand J Clin Lab Invest, 33, 191-197, 1974 HIS,PHE,FOG "Norum, Gjone: BBA, 144, 698-700, 1967 MEB,PAT "Rader DJ &: J Clin Invest, 93, 321-330, 1994 PRO,SEQ,EXP "Rogne S &: BBRC, 148, N1, 161-169, 1987 PAT,MEB,PHE "Sakuma &: Acta Med Scand, 212, 225-232, 1982 MUT "Skretting G &: FEBS Lett, 309, 307-310, 1992 PAT,MEB,PHE "Subbaiah, Pritchard: BBA, 1003, 143-150, 1989 PRO,SEQ,EXP "Tata F &: BBA, 910, 142-148, 1987 PAT,MEB,PHE "Teisberg P, Gjone: Acta Med Scand, 210, 1-2, 1981 LOC,CYG "Teisberg P &: Ann Hum Genet, 38, 327-331, 1975 LOC,CYG "Teisberg P, Gjone: Nature, 249, 550-551, 1974 PAT,MEB,PHE "Utermann G &: Clin Genet, 19, 448-455, 1981 PAT,MEB,PHE "Vergani &: Acta Med Scand, 214, 173-176, 1983 PAT,MEB,PHE "Weber &: Am J Clin Path, 88, 510-516, 1987 |
SWI | SWISSPROT: P04180 |
KEY | serp, lip |
CLA | coding, basic |
LOC | 16 q22.1 |
MIM | MIM: 245900 |
EZN | ENZYME: 2.3.1.43 |
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