Inosine-5'-monophosphate dehydrogenase 1, also known as IMP dehydrogenase 1, is an
enzyme
Enzymes () are proteins that act as biological catalysts by accelerating chemical reactions. The molecules upon which enzymes may act are called substrates, and the enzyme converts the substrates into different molecules known as products ...
that in humans is encoded by the ''IMPDH1''
gene
In biology, the word gene (from , ; "... Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''generation'' or ''birth'' or ''gender'') can have several different meanings. The Mendelian gene is a b ...
.
Function
IMP dehydrogenase 1 acts as a homotetramer to regulate cell growth. IMPDH1 is an enzyme that catalyzes the synthesis of
xanthine monophosphate (XMP) from
inosine-5'-monophosphate (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 pigmentosa
Retinitis pigmentosa (RP) is a genetic disorder of the eyes that causes loss of vision. Symptoms include trouble seeing at night and decreasing peripheral vision (side and upper or lower visual field). As peripheral vision worsens, people may ...
type 10 (RP10).
See also
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IMP dehydrogenase
IMP or imp may refer to:
* Imp, a fantasy creature
Arts and entertainment Fictional characters
* Imp (She-Ra), a character in ''She-Ra: Princess of Power''
* Imp a character in '' Artemis Fowl: The Lost Colony''
* Imp, a character in the '' Clan ...
References
Further reading
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External links
GeneReviews/NCBI/NIH/UW entry on Retinitis Pigmentosa Overview*
EC 1.1.1
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