IMPDH1
Encyclopedia
Inosine-5'-monophosphate dehydrogenase 1, also known as IMP dehydrogenase 1, is an enzyme
that in humans is encoded by the IMPDH1 gene
.
(XMP) from inosine-5'-monophosphate
(IMP). This is the rate-limiting step in the de novo synthesis of guanine nucleotides.
type 10 (RP10).
Enzyme
Enzymes are proteins that catalyze chemical reactions. In enzymatic reactions, the molecules at the beginning of the process, called substrates, are converted into different molecules, called products. Almost all chemical reactions in a biological cell need enzymes in order to occur at rates...
that in humans is encoded by the IMPDH1 gene
Gene
A gene is a molecular unit of heredity of a living organism. It is a name given to some stretches of DNA and RNA that code for a type of protein or for an RNA chain that has a function in the organism. Living beings depend on genes, as they specify all proteins and functional RNA chains...
.
Function
IMP dehydrogenase 1 acts as a homotetramer to regulate cell growth. IMPDH1 is an enzyme that catalyzes the synthesis of xanthine monophosphateXanthosine monophosphate
Xanthosine monophosphate is an intermediate in purine metabolism. It is a ribonucleoside monophosphate. It is formed from IMP via the action of IMP dehydrogenase, and it forms GMP via the action of GMP synthase.-Clinical significance:...
(XMP) from inosine-5'-monophosphate
Inosinic acid
Inosinic acid or inosine monophosphate is a nucleotide monophosphate. Inosinic acid is important in metabolism. It is the ribonucleotide of hypoxanthine and the first nucleotide formed during the synthesis of purine. It is formed by the deamination of adenosine monophosphate, and is hydrolysed...
(IMP). This is the rate-limiting step in the de novo synthesis of guanine nucleotides.
Clinical significance
Defects in the IMPDH1 gene are a cause of retinitis pigmentosaRetinitis pigmentosa
Retinitis pigmentosa is a group of genetic eye conditions that leads to incurable blindness. In the progression of symptoms for RP, night blindness generally precedes tunnel vision by years or even decades. Many people with RP do not become legally blind until their 40s or 50s and retain some...
type 10 (RP10).