Property Summary

NCBI Gene PubMed Count 131
Grant Count 1,504
R01 Count 881
Funding $209,074,589.32
PubMed Score 319.75
PubTator Score 232.12

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (4)

Synonym

Accession P55157 A8K428 Q08AM4 Q6P5T3
Symbols ABL
MTP

Gene

Gene RIF (128)

PMID Text
26458397 Results present evidence that MTTP polymorphisms could modulate the lipid homeostasis to determine the serum lipids and increase risk of non-alcoholic fatty liver disease.
26224785 the N-terminal domain of MTP is important for its lipid transfer activity
25921304 These studies indicated that SAP18 expression enhanced the recruitment of mSin3A in coordination with TRIB1 to MTTP regulatory elements and increased MTTP expression.
25501226 Findings from meta-analysis indicate that the MTP -493G/T polymorphism may contribute to the development of non-alcoholic fatty liver disease. Thus, the MTP -493G/T polymorphism may be a biomarker for the early detection of the disease.
25287167 MTTP SNPs (GG, GT, TT) and alleles (G, T) in the chronic hepatitis C (genotype 4) patients versus the uninfected controls were 70%, 21%, 9% & 80.5%, 19.5% versus 10%, 87.5%, 2.5% & 53.8%, 46.3%, respectively (p=0.0001).
24842304 Homozygous MTTP mutations may lead to hepatic steatosis and fibrosis despite metabolic differences in congenital hypocholesterolemia.
24588800 Meta-analysis results revealed that MTP -493G>T polymorphism was strongly correlated with an increased risk of nonalcoholic fatty liver disease. [Meta-analysis]
24378322 The MTP-493G/T polymorphism modulates postprandial apoB48 and apoB100 of triglyceride-rich lipoproteins in familial combined hyperlipidemia
24139731 Report of two new mutations of MTTP, a nonsense mutation c.2313T > A leading to a truncated protein (p.Y771X) and a splice mutation IVS 9 + 2T > G, in abetalipoproteinemia
23738963 MTTP genetic polymorphisms influence the susceptibility to developing NAFLD in the Han Chinese population.
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AA Sequence

MILLAVLFLCFISSYSASVKGHTTGLSLNNDRLYKLTYSTEVLLDRGKGKLQDSVGYRISSNVDVALLWR      1 - 70
NPDGDDDQLIQITMKDVNVENVNQQRGEKSIFKGKSPSKIMGKENLEALQRPTLLHLIHGKVKEFYSYQN     71 - 140
EAVAIENIKRGLASLFQTQLSSGTTNEVDISGNCKVTYQAHQDKVIKIKALDSCKIARSGFTTPNQVLGV    141 - 210
SSKATSVTTYKIEDSFVIAVLAEETHNFGLNFLQTIKGKIVSKQKLELKTTEAGPRLMSGKQAAAIIKAV    211 - 280
DSKYTAIPIVGQVFQSHCKGCPSLSELWRSTRKYLQPDNLSKAEAVRNFLAFIQHLRTAKKEEILQILKM    281 - 350
ENKEVLPQLVDAVTSAQTSDSLEAILDFLDFKSDSSIILQERFLYACGFASHPNEELLRALISKFKGSIG    351 - 420
SSDIRETVMIITGTLVRKLCQNEGCKLKAVVEAKKLILGGLEKAEKKEDTRMYLLALKNALLPEGIPSLL    421 - 490
KYAEAGEGPISHLATTALQRYDLPFITDEVKKTLNRIYHQNRKVHEKTVRTAAAAIILNNNPSYMDVKNI    491 - 560
LLSIGELPQEMNKYMLAIVQDILRFEMPASKIVRRVLKEMVAHNYDRFSRSGSSSAYTGYIERSPRSAST    561 - 630
YSLDILYSGSGILRRSNLNIFQYIGKAGLHGSQVVIEAQGLEALIAATPDEGEENLDSYAGMSAILFDVQ    631 - 700
LRPVTFFNGYSDLMSKMLSASGDPISVVKGLILLIDHSQELQLQSGLKANIEVQGGLAIDISGAMEFSLW    701 - 770
YRESKTRVKNRVTVVITTDITVDSSFVKAGLETSTETEAGLEFISTVQFSQYPFLVCMQMDKDEAPFRQF    771 - 840
EKKYERLSTGRGYVSQKRKESVLAGCEFPLHQENSEMCKVVFAPQPDSTSSGWF                    841 - 894
//

Text Mined References (136)

PMID Year Title
27206948 Novel APOB missense variants, A224T and V925L, in a black South African woman with marked hypocholesterolemia.
26458397 2015 MTTP-297H polymorphism reduced serum cholesterol but increased risk of non-alcoholic fatty liver disease-a cross-sectional study.
26224785 2015 Novel Abetalipoproteinemia Missense Mutation Highlights the Importance of the N-Terminal ?-Barrel in Microsomal Triglyceride Transfer Protein Function.
25921304 2015 Sin3A-associated protein, 18 kDa, a novel binding partner of TRIB1, regulates MTTP expression.
25501226 2014 Correlation between MTP -493G>T polymorphism and non-alcoholic fatty liver disease risk: a meta-analysis.
25287167 2014 A polymorphism in the microsomal triglyceride transfer protein can predict the response to antiviral therapy in Egyptian patients with chronic hepatitis C virus genotype 4 infection.
25108285 2014 Novel missense MTTP gene mutations causing abetalipoproteinemia.
24842304 2014 Homozygous MTTP and APOB mutations may lead to hepatic steatosis and fibrosis despite metabolic differences in congenital hypocholesterolemia.
24588800 2014 MTP -493G>T polymorphism and susceptibility to nonalcoholic fatty liver disease: a meta-analysis.
24378322 MTP gene polymorphisms and postprandial lipemia in familial combined hyperlipidemia: effects of treatment with atorvastatin.
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