MVK across dismech

MVK (mevalonate kinase) encodes the cytosolic kinase that phosphorylates mevalonate, the step after HMG-CoA reductase in the mevalonate pathway. It is named by 2 disorder entries: Mevalonate Kinase Deficiency; and Porokeratosis.

Normal function

ai-gene-review gives MVK's core molecular functions as ATP binding; magnesium ion binding; and mevalonate kinase activity, acting in isopentenyl diphosphate biosynthetic process, mevalonate pathway in the cytosol.

Causative records

Both entries type MVK as causative (Mevalonate Kinase Deficiency; and Porokeratosis) and record the variants as germline (Mevalonate Kinase Deficiency; and Porokeratosis). In Mevalonate Kinase Deficiency the gene sits on Mevalonate Kinase Deficiency and Isoprenoid Shortage, and ClinGen rates the relationship definitive.

Where the layers disagree

The KB marks cholesterol biosynthetic process; and isoprenoid biosynthetic process as decreased on MVK's nodes, while ai-gene-review names the more specific mevalonate-pathway process, so the two share 0 GO terms by exact identifier. The ai-gene-review term is a part of isoprenoid biosynthesis, so the two are compatible rather than in conflict.