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Mevalonate kinase is an enzyme (specifically a kinase) that in humans is encoded by the MVK gene. [ 6 ] [ 7 ] Mevalonate kinases are found in a wide variety of organisms from bacteria to mammals. This enzyme catalyzes the following reaction:
Mevalonate kinase deficiency is inherited in an autosomal recessive manner, meaning that a child must inherit a defective copy of the gene from both parents to be affected. [2] It is an example of a loss-of-function mutation. The gene which codes for mevalonate kinase consists of 10 exons at locus 12q14. [6]
mevalonate-3-phosphate-5-kinase: Mevalonate-3-phosphate is phosphorylated at the 5-OH position to yield mevalonate-5-phosphate (also called phosphomevalonic acid). 1 ATP is consumed. phosphomevalonate kinase: mevalonate-5-phosphate is phosphorylated to yield mevalonate-5-pyrophosphate. 1 ATP is consumed. mevalonate-5-pyrophosphate decarboxylase
An excellent review on regulation of the mevalonate pathway by Nobel Laureates Joseph Goldstein and Michael Brown adds specifics: HMG-CoA reductase is phosphorylated and inactivated by an AMP-activated protein kinase, which also phosphorylates and inactivates acetyl-CoA carboxylase, the rate-limiting enzyme of fatty acid biosynthesis. [37]
Galactokinase deficiency, also known as galactosemia type II, is a recessive metabolic disorder caused by a mutation in human galactokinase. About 20 mutations have been identified that cause galactosemia type II, the main symptom of which is early onset cataracts. In lens cells of the human eye, aldose reductase converts galactose to ...
Both mevalonate kinase and mevalonate diphosphate decarboxylase probably evolved from a common ancestor since they have a similar fold and catalyze phosphorylation of similar substrates. [ 6 ] [ 7 ] Due to these commonalities, both enzymes are often studied comparatively, and especially in reference to inhibitors.
Phosphomevalonate kinase is an enzyme (EC 2.7.4.2) in the mevalonate pathway [5] [6] [7] that in humans is encoded by the PMVK gene. Mevalonate pathway References
Some specialists believe they have discovered a link between CRMO with a rare allele of marker D18S60, resulting in a haplotype relative risk (HRR) of 18. Other experts found that "mutations in LPIN2 cause a syndromic form of chronic recurrent multifocal osteomyelitis known as Majeed syndrome, while mutations in pstpip2 cause a murine form of the disorder.