Gene: [02p2/APOB] apolipoprotein B (including Agx antigen); normotriglyceridemic abetalipoproteinemia, Steinberg type; familial hypobetalipoproteinemia; acanthocytosis (deficiency of apolipoprotein B; MIM:200100); [APOB100 ]


GEN

The gene length is 43 kb. Exons: 29; introns: 28. Two exons are unusually long: 1.9 kb (the 29th) and 7.6 kb (the 26th); the length of the remaining exons vary within the limits of 150-250 bp. The mature mRNA, 14.1 kb in length, codes for the protein comprising 4563 amino acid residues."

FUN

[1] Circulatory APOB is a ligand for the receptor-mediated transition of very low density lipoproteins (VLDL particles) into cells and plays the central role in the transport and metabolism of serum cholesterol.
[2] In addition, APOB, along with glycoprotein Lp(a) (GEM:06q27/APOLPA), participates in formation of the complex of serum lipoprotein(a), which plays an important role in atherogenesis and pathogenesis of coronary disease."

MOP

APOB has two forms: (I) apoB100 (500 kD; 14.1 kb mRNA) is synthesized in liver and participates in the packing of VLDL particles, (II) apoB48 (210 kD; 7.5 kb mRNA) is synthesized in intestine and participates in formation of chylomicrons (Chen-1987). ApoB-48 represents the amino-terminal 47% of apoB-100 and that the carboxyl terminus of apoB-48 is in the vicinity of residue 2151 of apoB-100 (Innerarity-1987). ApoB-48 contains 2,152 residues compared to 4,535 residues in apoB-100 (Higuchi-1988). Both forms are alternative splicing products of the single gene (Cladaras-1986)."

FAG

[1] About apolipoprotein B mRNA editing enzyme see GEM:12p131/APOBEC and GEM:00.0/APOBER.
[2] On the microsomal triglyceride transfer protein involved in abetolipoproteinemia see GEM:04q24/MTP."

BIB

Bibliography on the general problems of atherogenesis, CHD, and the role of other serum apolipoprotein systems in these pathologies is presented in FAM:APOLP/00.0."

REF

LOC,MOL,POL "Aalto-Setala &: Hum Genet, 82, 305-307, 1989
POL,MUT,PAT "Barni N &: Hum Genet, 73, 313-319, 1986
LOC,MOL,POL "Berg K: CCG, 51, (HGM10), 961-962, 1989
LOC,MOL,POL "Berg K: CCG, 46, (HGM9), 580, 1987
LOC,MOL,POL "Berg K &: PNAS, 83, N19, 7367-7370, 1986a
POL,MUT,PAT "Berg K: Clin Genet, 30, 515-520, 1986b
GEN,SEQ,MOP "Blackhart BD &: JBC, 261, N33, 15364-15367, 1986
PEP,MOP,EXP "Bostrom &: Eur J Biochem, 143, 101-107, 1984
PRO,SEQ,EXP "Carlsson P &: Gene, 49, 29-51, 1986
PRO,SEQ,EXP "Carlsson P &: NAR, 13, N24, 8813-8826, 1985
POL,MUT,PAT "Chan &: BBRC, 133, N1, 248-255, 1985
PRO,SEQ,EXP "Chen S-H &: Science, 238, 363-366, 1987
PRO,SEQ,EXP "Chen S-H &: JBC, 261, 12918-12921, 1986
PRO,SEQ,EXP "Cladaras C &: EMBO J, 5, 3495-3507, 1986
PEP,MOP,EXP "De Loof &: J Lipid Res, 28, 1455-1465, 1987
LOC,MOL,POL "Deeb SS &: PNAS, 83, N2, 419-422, 1986
POL,MUT,PAT "Dunning AM &: Clin Genet, 33, 181-188, 1988
POL,MUT,PAT "Dunning AM &: CCG, 46, (HGM9), 609, 1987
PEP,MOP,EXP "Edge &: Metabolism, 34, N8, 726-730, 1985
MEB,PAT,MOL "Editorial: Lancet, 1, (21 May), 1141-1142, 1988
MEB,PAT,MOL "Elovson &: J Lipid Res, 29, 1461-1473, 1988
POL,MUT,PAT "Frossard PM &: NAR, 14, N10, 4373, 1986
PEP,MOP,EXP "Glickman &: PNAS, 83, N14, 5296-5300, 1986
PEP,MOP,EXP "Hardman DA &: Biochemistry, 26, 5478-5486, 1987
MEB,PAT,MOL "Hazzard &: Metabolism, 33, N10, 873-881, 1984
POL,MUT,PAT "Hegele &: New Engl J Med, 315, N24, 1509-1515, 1986
PRO,SEQ,EXP "Higuchi K &: PNAS, 85, N6, 1772-1776, 1988
PRO,SEQ,EXP "Higuchi K &: BBRC, 144, N3, 1332-1339, 1987
PEP,MOP,EXP "Hospattankar &: JBC, 261, 9102-9104, 1986
LOC,MOL,POL "Huang LS &: PNAS, 83, N3, 644-648, 1986
PRO,SEQ,EXP "Huang LS &: PNAS, 82, N20, 6825-6829, 1985
PEP,MOP,EXP "Innerarity &: J Clin Invest, 80, 1794-1798, 1987
MEB,PAT,MOL "James &: J Lipid Res, 30, 159-169, 1989
PRO,SEQ,EXP "Knott TJ &: NAR, 14, 7501-7503, 1986a
PRO,SEQ,EXP "Knott TJ &: Nature, 323, N6090, 734-738, 1986b
LOC,MOL,POL "Knott TJ &: Science, 230, (4 Oct), 37-43, 1985
POL,MUT,PAT "Law A &: Lancet, 1, (7 Jun), 1301-1303, 1986a
PRO,SEQ,EXP "Law SW &: PNAS, 83, N21, 8142-8146, 1986b
LOC,MOL,POL "Law SW &: BBRC, 131, N2, 1003-1012, 1985a
LOC,MOL,POL "Law SW &: PNAS, 82, N24, 8340-8344, 1985b
POL,MUT,PAT "Leren TP &: Clin Genet, 34, 347-351, 1988
MEB,PAT,MOL "Levy &: J Lipid Res, 28, 1263-1274, 1987
GEN,SEQ,MOP "Ludwig EH &: DNA, 6, N4, 363-372, 1987
LOC,MOL,POL "Mehrabian M &: Somat Cell Mol Genet, 12, N3, 245-254, 1986
PRO,SEQ,EXP "Mehrabian M &: NAR, 13, N19, 6937-6953, 1985
PEP,MOP,EXP "Milne, Marcel: Can J Biochem Cell Biol, 63, 906-912, 1985
POL,MUT,PAT "Monsalve &: Atherosclerosis, 70, 123-129, 1988
PEP,MOP,EXP "Olofsson &: FEBS Lett, 156, N1, 63-66, 1983
MEB,PAT,MOL "Pairitz &: AJHG, 43, 311-321, 1988
PRO,SEQ,EXP "Powell LM &: Cell, 50, (11 Sep), 831-840, 1987
POL,MUT,PAT "Priestley L &: NAR, 13, N18, 6790, 1985a
POL,MUT,PAT "Priestley L &: NAR, 13, N18, 6791, 1985b
POL,MUT,PAT "Priestley L &: NAR, 13, N18, 6792, 1985c
POL,MUT,PAT "Priestley L &: NAR, 13, N18, 6793, 1985d
PRO,SEQ,EXP "Protter AA &: PNAS, 83, N5, 1467-1471, 1986a
PRO,SEQ,EXP "Protter AA &: PNAS, 83, N15, 5678-5682, 1986b
PRO,SEQ,EXP "Shoulders CC &: Atherosclerosis, 58, 277-289, 1985
MEB,PAT,MOL "Sullivan &: Atherosclerosis, 61, 129-134, 1986
PRO,SEQ,EXP "Wei CF &: PNAS, 82, N21, 7265-7269, 1985
POL,MUT,PAT "Weisgraber &: PNAS, 85, N24, 9758-9762, 1988
POL,MUT,PAT "Xu CF &: Hum Genet, 82, 322-326, 1989
PRO,SEQ,EXP "Yang &: JBC, 261, 2995-2998, 1986a
PEP,MOP,EXP "Yang &: Nature, 323, (23 Oct), N6090, 738-742, 1986b
LOC,MOL,POL "Young SG, Hubl: J Lipid Res, 30, 443-449, 1989

SWI

SWISSPROT: P04114

KEY

ats, card, lip

CLA

coding, basic

LOC

02 p24-23

MIM

MIM: 107730

SYN

APOB100

鸯铗痂蝈 蜞赕:

  • 沐 囡铍栾铒痤蝈桧 B100
  • 缅 APOB 麇腩忮赅: 忖邃屙桢
  • 门 APOB