rs1800803
This is a intron variant variant in the MTTP gene.
▶Research that mentions this SNP (1)
▶Functional analysis of promoter variants in the microsomal triglyceride transfer protein (MTTP) geneFunctionalDiana Rubin et al.(2008)· Human Mutation
This functional study examined the impact of three common MTTP promoter polymorphisms (rs1800804 -164T>C, rs1800803 -400A>T, rs1800591 -493G>T) on gene expression and LDL cholesterol levels. The common haplotype -164T/-400A/-493G showed approximately twofold lower promoter activity than the rare -164C/-400T/-493T haplotype in hepatic cells, with the -164T>C variant playing a key role. EMSA revealed differential SREBP1a transcription factor binding to the -164 region, explaining functional differences in MTTP expression.
About MTTP
MTP encodes the large subunit of the heterodimeric microsomal triglyceride transfer protein. Protein disulfide isomerase (PDI) completes the heterodimeric microsomal triglyceride transfer protein, which has been shown to play a central role in lipoprotein assembly. Mutations in MTP can cause abetalipoproteinemia. [provided by RefSeq, Jul 2008]
View all MTTP variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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