Variant: rs1367079155 

    present in Gene: MTTP
    present in Chromosome: 4
    Position on Chromosome: 99594764
    Alleles of this Variant: G/C

rs1367079155 in MTTP gene and Abetalipoproteinemia PMID 23475612 2013 Loss of both phospholipid and triglyceride transfer activities of microsomal triglyceride transfer protein in abetalipoproteinemia.

PMID 8939939 1996 A novel abetalipoproteinemia genotype. Identification of a missense mutation in the 97-kDa subunit of the microsomal triglyceride transfer protein that prevents complex formation with protein disulfide isomerase.

PMID 22236406 2012 Molecular and functional analysis of two new MTTP gene mutations in an atypical case of abetalipoproteinemia.

PMID 26224785 2015 Novel Abetalipoproteinemia Missense Mutation Highlights the Importance of the N-Terminal β-Barrel in Microsomal Triglyceride Transfer Protein Function.

PMID 25108285 2014 In two patients with ABL, we identified in MTTP a novel frameshift mutation (K35Ffs*37), and four novel missense mutations, namely, G264R, Y528H, R540C, and N649S.

PMID 10946006 2000 Novel mutations in the microsomal triglyceride transfer protein gene causing abetalipoproteinemia.

PMID 10679949 2000 Microsomal triglyceride transfer protein (MTP) gene mutations in Canadian subjects with abetalipoproteinemia.