• Source: IMPDH1

Inosine-5'-monophosphate dehydrogenase 1, also known as IMP dehydrogenase 1, is an enzyme that in humans is encoded by the IMPDH1 gene.




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 type 10 (RP10).




See also


IMP dehydrogenase




References






Further reading






External links


GeneReviews/NCBI/NIH/UW entry on Retinitis Pigmentosa Overview
Overview of all the structural information available in the PDB for UniProt: P20839 (Inosine-5'-monophosphate dehydrogenase 1) at the PDBe-KB.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.

Kata Kunci Pencarian:

• Daftar gen penyandi protein pada manusia/2
• IMPDH1
• Inosine-5′-monophosphate dehydrogenase
• Leber congenital amaurosis
• Retinitis pigmentosa
• List of genetic disorders
• List of human protein-coding genes 2
• RP1
• IMPDH2
• List of OMIM disorder codes