MTTP Chromosome 4
Microsomal triglyceride transfer protein
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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 |
|---|---|---|---|
| RS752556986 | Health Risk | Pathogenic | — |
| RS755681036 | Health Risk | Pathogenic | Abetalipoproteinaemia, Abetalipoproteinaemia |
| RS75621801 | Health Risk | Pathogenic | — |
| RS762781522 | Health Risk | Pathogenic | — |
| RS762901763 | Health Risk | Pathogenic | Abetalipoproteinaemia, MTTP-related disorder, Abetalipoproteinaemia |
| RS764189338 | Health Risk | Pathogenic | Abetalipoproteinaemia, Abetalipoproteinaemia |
| RS776885561 | Health Risk | Pathogenic | — |
| RS1190052366 | Health Risk | Pathogenic/Likely pathogenic | MTTP-related disorder, MTTP-related disorder |
| RS1228389182 | Health Risk | Pathogenic/Likely pathogenic | Abetalipoproteinaemia, Metabolic syndrome X, Abetalipoproteinaemia |
| RS1369425792 | Health Risk | Pathogenic/Likely pathogenic | Abetalipoproteinaemia, Abetalipoproteinaemia |
| RS1560614646 | Health Risk | Pathogenic/Likely pathogenic | Abetalipoproteinaemia, Abetalipoproteinaemia |
| RS1725827570 | Health Risk | Pathogenic/Likely pathogenic | Abetalipoproteinaemia, Abetalipoproteinaemia |
| RS1725952378 | Health Risk | Pathogenic/Likely pathogenic | Abetalipoproteinaemia, Abetalipoproteinaemia |
| RS199422220 | Health Risk | Pathogenic/Likely pathogenic | Abetalipoproteinaemia, Abetalipoproteinaemia |
| RS2110230146 | Health Risk | Pathogenic/Likely pathogenic | Abetalipoproteinaemia, Metabolic syndrome X, Abetalipoproteinaemia |
| RS2476158124 | Health Risk | Pathogenic/Likely pathogenic | Abetalipoproteinaemia, Abetalipoproteinaemia |
| RS372321643 | Health Risk | Pathogenic/Likely pathogenic | Abetalipoproteinaemia, Abetalipoproteinaemia |
| RS760855321 | Health Risk | Pathogenic/Likely pathogenic | Abetalipoproteinaemia, Abetalipoproteinaemia |
| RS777548973 | Health Risk | Pathogenic/Likely pathogenic | Abetalipoproteinaemia, Abetalipoproteinaemia |