MTTP Chromosome 4

Microsomal triglyceride transfer protein
169 variants 169 Health Risk

Upload your DNA to see your personal genotypes for variants in MTTP.

What This Gene Does
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]
Associated Conditions (5)
Abetalipoproteinaemia
Inborn genetic diseases
MTTP-related disorder
Ovarian cancer
Metabolic syndrome X
Key Variants
RS1001965936
Conflicting classifications of pathogenicity
Abetalipoproteinaemia, Abetalipoproteinaemia
Health Risk
RS139490666
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS144590904
Conflicting classifications of pathogenicity
Abetalipoproteinaemia, MTTP-related disorder, Abetalipoproteinaemia
Health Risk
RS144600401
Conflicting classifications of pathogenicity
Abetalipoproteinaemia, MTTP-related disorder, Inborn genetic diseases
Health Risk
RS145724674
Conflicting classifications of pathogenicity
Abetalipoproteinaemia, Abetalipoproteinaemia
Health Risk
RS146953015
Conflicting classifications of pathogenicity
Abetalipoproteinaemia, Abetalipoproteinaemia
Health Risk
RS147921439
Conflicting classifications of pathogenicity
Abetalipoproteinaemia, MTTP-related disorder, Abetalipoproteinaemia
Health Risk
RS148362467
Conflicting classifications of pathogenicity
Abetalipoproteinaemia, Abetalipoproteinaemia
Health Risk
RS199716549
Conflicting classifications of pathogenicity
Abetalipoproteinaemia, Abetalipoproteinaemia
Health Risk
RS200628118
Conflicting classifications of pathogenicity
Abetalipoproteinaemia, Abetalipoproteinaemia
Health Risk
RS367982075
Conflicting classifications of pathogenicity
Abetalipoproteinaemia, Abetalipoproteinaemia
Health Risk
RS368989581
Conflicting classifications of pathogenicity
Abetalipoproteinaemia, Abetalipoproteinaemia
Health Risk
All Variants (169)
RSID Category Clinical Significance Conditions
RS2476086631 Health Risk Likely pathogenic Abetalipoproteinaemia, Abetalipoproteinaemia
RS2476090042 Health Risk Likely pathogenic Abetalipoproteinaemia, Abetalipoproteinaemia
RS2476090213 Health Risk Likely pathogenic Abetalipoproteinaemia, Abetalipoproteinaemia
RS2476090307 Health Risk Likely pathogenic Abetalipoproteinaemia, Abetalipoproteinaemia
RS2476090399 Health Risk Likely pathogenic —
RS2476103063 Health Risk Likely pathogenic Abetalipoproteinaemia, Abetalipoproteinaemia
RS2476106449 Health Risk Likely pathogenic Abetalipoproteinaemia, Abetalipoproteinaemia
RS2476107655 Health Risk Likely pathogenic Abetalipoproteinaemia, Abetalipoproteinaemia
RS2476107722 Health Risk Likely pathogenic Abetalipoproteinaemia, Abetalipoproteinaemia
RS2476107771 Health Risk Likely pathogenic Abetalipoproteinaemia, Abetalipoproteinaemia
RS2476107903 Health Risk Likely pathogenic Abetalipoproteinaemia, Abetalipoproteinaemia
RS2476113390 Health Risk Likely pathogenic Abetalipoproteinaemia, Abetalipoproteinaemia
RS2476113393 Health Risk Likely pathogenic Abetalipoproteinaemia, Abetalipoproteinaemia
RS2476113679 Health Risk Likely pathogenic —
RS2476118133 Health Risk Likely pathogenic Abetalipoproteinaemia, Abetalipoproteinaemia
RS2476124246 Health Risk Likely pathogenic Abetalipoproteinaemia, Abetalipoproteinaemia
RS2476124425 Health Risk Likely pathogenic Abetalipoproteinaemia, Abetalipoproteinaemia
RS2476126262 Health Risk Likely pathogenic Abetalipoproteinaemia, Abetalipoproteinaemia
RS2476134780 Health Risk Likely pathogenic Abetalipoproteinaemia, Abetalipoproteinaemia
RS2476141279 Health Risk Likely pathogenic Abetalipoproteinaemia, Abetalipoproteinaemia
RS2476141442 Health Risk Likely pathogenic Abetalipoproteinaemia, Abetalipoproteinaemia
RS2476141537 Health Risk Likely pathogenic MTTP-related disorder, MTTP-related disorder
RS2476141732 Health Risk Likely pathogenic Abetalipoproteinaemia, Abetalipoproteinaemia
RS2476145662 Health Risk Likely pathogenic —
RS2476145943 Health Risk Likely pathogenic Abetalipoproteinaemia, Abetalipoproteinaemia
RS2476146041 Health Risk Likely pathogenic Abetalipoproteinaemia, Abetalipoproteinaemia
RS2476146079 Health Risk Likely pathogenic Abetalipoproteinaemia, Abetalipoproteinaemia
RS2476149064 Health Risk Likely pathogenic Abetalipoproteinaemia, Abetalipoproteinaemia
RS2476149238 Health Risk Likely pathogenic Abetalipoproteinaemia, Abetalipoproteinaemia
RS2476149269 Health Risk Likely pathogenic Abetalipoproteinaemia, Abetalipoproteinaemia
RS2476149431 Health Risk Likely pathogenic Abetalipoproteinaemia, Abetalipoproteinaemia
RS2476158333 Health Risk Likely pathogenic Abetalipoproteinaemia, Abetalipoproteinaemia
RS2476161572 Health Risk Likely pathogenic —
RS371577788 Health Risk Likely pathogenic —
RS752343394 Health Risk Likely pathogenic Abetalipoproteinaemia, MTTP-related disorder, Abetalipoproteinaemia
RS760547155 Health Risk Likely pathogenic Abetalipoproteinaemia, MTTP-related disorder, Abetalipoproteinaemia
RS767833468 Health Risk Likely pathogenic Abetalipoproteinaemia, Abetalipoproteinaemia
RS956227338 Health Risk Likely pathogenic Abetalipoproteinaemia, Abetalipoproteinaemia
RS1216021480 Health Risk Pathogenic —
RS1350615652 Health Risk Pathogenic —
RS1383256536 Health Risk Pathogenic —
RS1429774833 Health Risk Pathogenic Abetalipoproteinaemia, Abetalipoproteinaemia
RS1458456081 Health Risk Pathogenic Abetalipoproteinaemia, Abetalipoproteinaemia
RS146064714 Health Risk Pathogenic Abetalipoproteinaemia, Abetalipoproteinaemia
RS1469276846 Health Risk Pathogenic —
RS1486107465 Health Risk Pathogenic —
RS149385240 Health Risk Pathogenic —
RS1553926818 Health Risk Pathogenic Abetalipoproteinaemia, Abetalipoproteinaemia
RS1560614154 Health Risk Pathogenic Abetalipoproteinaemia, Abetalipoproteinaemia
RS1560621444 Health Risk Pathogenic Abetalipoproteinaemia, Abetalipoproteinaemia
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