MVD Chromosome 16
Mevalonate diphosphate decarboxylase
Upload your DNA to see your personal genotypes for variants in MVD.
What This Gene Does
The enzyme mevalonate pyrophosphate decarboxylase catalyzes the conversion of mevalonate pyrophosphate into isopentenyl pyrophosphate in one of the early steps in cholesterol biosynthesis. It decarboxylates and dehydrates its substrate while hydrolyzing ATP. [provided by RefSeq, Jul 2008]
Associated Conditions (13)
Porokeratosis 7
multiple types
Linear porokeratosis
MVD-related disorder
Malignant tumor of esophagus
Cervical cancer
Colon adenocarcinoma
Colorectal cancer
Gastric cancer
Ovarian serous cystadenocarcinoma
Uterine corpus endometrial carcinoma
Thymoma
Lung cancer
Key Variants
RS139812589
Conflicting classifications of pathogenicity
Porokeratosis 7, multiple types, Porokeratosis 7
Health Risk
RS200035262
Conflicting classifications of pathogenicity
Linear porokeratosis, Porokeratosis 7, multiple types
Health Risk
RS2142896426
Likely pathogenic
Linear porokeratosis, Linear porokeratosis
Health Risk
RS2142906391
Pathogenic
Porokeratosis 7, multiple types, Porokeratosis 7
Health Risk
RS755948940
Pathogenic
Porokeratosis 7, multiple types, Porokeratosis 7
Health Risk
RS761991070
Pathogenic
Porokeratosis 7, multiple types, MVD-related disorder
Health Risk
RS780212718
Pathogenic
Porokeratosis 7, multiple types, Porokeratosis 7
Health Risk
All Variants (7)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS139812589 | Health Risk | Conflicting classifications of pathogenicity | Porokeratosis 7, multiple types, Porokeratosis 7 |
| RS200035262 | Health Risk | Conflicting classifications of pathogenicity | Linear porokeratosis, Porokeratosis 7, multiple types |
| RS2142896426 | Health Risk | Likely pathogenic | Linear porokeratosis, Linear porokeratosis |
| RS2142906391 | Health Risk | Pathogenic | Porokeratosis 7, multiple types, Porokeratosis 7 |
| RS755948940 | Health Risk | Pathogenic | Porokeratosis 7, multiple types, Porokeratosis 7 |
| RS761991070 | Health Risk | Pathogenic | Porokeratosis 7, multiple types, MVD-related disorder |
| RS780212718 | Health Risk | Pathogenic | Porokeratosis 7, multiple types, Porokeratosis 7 |