PMVK

Chr 1q21.3

phosphomevalonate kinase

Aliases:: PMK, PMKA, HUMPMKI
MANE:: ENST00000368467.4

OMIM: 607622 ↗NCBI: 10654 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

PMVK · Q15126

v62025-08-01

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

Mean pLDDT

92.4/ 100

Very high

192 residues

Confidence breakdown

Very high(≥ 90)81%
Confident(70–90)14%
Low(50–70)5%
Very low(< 50)0%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

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

Disease associations (Open Targets)

porokeratosis 1, Mibelli type
0.64
neurodegenerative disease
0.53
porokeratosis
0.42
porokeratosis of Mibelli
0.37
linear porokeratosis
0.35
functional neutrophil defect
0.31
hereditary disease
0.19
atrial fibrillation
0.12
osteoarthritis, knee
0.10
total knee arthroplasty
0.10

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

Protein function (UniProt)

Phosphomevalonate kinase

Catalyzes the reversible ATP-dependent phosphorylation of mevalonate 5-phosphate to produce mevalonate diphosphate and ADP, a key step in the mevalonic acid mediated biosynthesis of isopentenyl diphosphate and other polyisoprenoid metabolites