MVD

Chr 16q24.2

mevalonate diphosphate decarboxylase

Aliases:: MPD
MANE:: ENST00000301012.8

OMIM: 603236 ↗NCBI: 4597 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

MVD · P53602

v62025-08-01

Predicted Aligned Error matrix for MVD — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

92.1/ 100

Very high

400 residues

Confidence breakdown

Very high(≥ 90)82%
Confident(70–90)11%
Low(50–70)5%
Very low(< 50)2%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Familial disseminated superficial actinic porokeratosis
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mosaic skin disorders - deep sequencing
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Rare genetic inflammatory skin disorders
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

disseminated superficial actinic porokeratosis
0.77
porokeratosis 7, multiple types
0.68
neurodegenerative disease
0.55
linear porokeratosis
0.32
phototoxic dermatitis
0.28
lysosomal storage disease
0.27
stroke disorder
0.15
alcohol drinking
0.15
Varicose veins
0.14
autosomal dominant nonsyndromic hearing loss
0.11

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Diphosphomevalonate decarboxylase

Catalyzes the ATP dependent decarboxylation of (R)-5-diphosphomevalonate to form isopentenyl diphosphate (IPP). Functions in the mevalonate (MVA) pathway leading to isopentenyl diphosphate (IPP), a key precursor for the biosynthesis of isoprenoids and sterol synthesis