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MGP001975

UniProt Annotations

Entry Information
Gene Namemicrosomal triglyceride transfer protein
Protein EntryMTP_HUMAN
UniProt IDP55157
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=1; IsoId=P55157-1; Sequence=Displayed; Name=2; IsoId=P55157-2; Sequence=VSP_056325, VSP_056326; Note=No experimental confirmation available.;
DiseaseAbetalipoproteinemia (ABL) [MIM:200100]: An autosomal recessive disorder of lipoprotein metabolism. Affected individuals produce virtually no circulating apolipoprotein B-containing lipoproteins (chylomicrons, VLDL, LDL, lipoprotein(A)). Malabsorption of the antioxidant vitamin E occurs, leading to spinocerebellar and retinal degeneration. {ECO:0000269|PubMed:10679949, ECO:0000269|PubMed:10946006, ECO:0000269|PubMed:8939939}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionCatalyzes the transport of triglyceride, cholesteryl ester, and phospholipid between phospholipid surfaces. Required for the secretion of plasma lipoproteins that contain apolipoprotein B.
InductionPositively regulated by cholesterol and negatively regulated by insulin. {ECO:0000269|PubMed:7961826}.
SimilarityContains 1 vitellogenin domain. {ECO:0000255|PROSITE- ProRule:PRU00557}.
Subcellular LocationEndoplasmic reticulum.
SubunitHeterodimer composed of MTTP and of protein disulfide isomerase (P4HB/PDI). {ECO:0000250}.
Tissue SpecificityLiver and small intestine. Also found in ovary, testis and kidney. {ECO:0000269|PubMed:7961826}.
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