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Article

A novel homozygous variant in PMVK is associated with enhanced IL1β secretion and a hyper-IgD syndrome-like phenotype.

Clinical genetics - 1 Mar 2024

Jairaman Amit, Badiger Vaishnavi Ashok, Raj Spoorthy, Nair Karthik Vijay, Balan Suma, Narayanan Dhanya Lakshmi

Abstract excerpt

The evolutionarily conserved mevalonate pathway plays an important role in the synthesis of cholesterol and isoprenoid compounds. Mevalonate kinase (MVK) and phosphomevalonate kinase (PMVK) enzymes regulate key rate-limiting steps in this pathway by sequentially phosphorylating mevalonic acid to yield downstream metabolites that regulate protein prenylation and cell signaling. Biallelic pathogenic variants in MVK...

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PMID: 38018277
DOI: 10.1111/cge.14451

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