Also known as HUMPMKI, PMK, PMKA, PMKASE, POROK1, phosphomevalonate kinase
protein-coding gene in the species Homo sapiens
This gene encodes a peroxisomal enzyme that is a member of the galactokinase, homoserine kinase, mevalonate kinase, and phosphomevalonate kinase (GHMP) family of ATP-dependent enzymes. The encoded protein catalyzes the conversion of mevalonate 5-phosphate to mevalonate 5-diphosphate, which is the fifth step in the mevalonate pathway of isoprenoid biosynthesis. Mutations in this gene are linked to certain types of porokeratosis including disseminated superficial porokeratosis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2017].
Biological process
via MyGene.info
Discovered by embedding cosine similarity (sentence-transformers MiniLM, 384-dim).