IMPDH1

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IMPDH1
PDB 1jcn EBI.jpg
Available structures
PDB Ortholog search: PDBe RCSB
Identifiers
Aliases IMPDH1, IMPD, IMPD1, IMPDH-I, LCA11, RP10, sWSS2608, IMP (inosine 5'-monophosphate) dehydrogenase 1, inosine monophosphate dehydrogenase 1
External IDs MGI: 96567 HomoloGene: 68096 GeneCards: IMPDH1
Targeted by Drug
mycophenolate mofetil, mycophenolic acid, ribavirin, thioguanine anhydrous[1]
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_011829
NM_001302933
NM_001302934

RefSeq (protein)
Location (UCSC) Chr 7: 128.39 – 128.41 Mb Chr 6: 29.2 – 29.22 Mb
PubMed search [2] [3]
Wikidata
View/Edit Human View/Edit Mouse

Inosine-5'-monophosphate dehydrogenase 1, also known as IMP dehydrogenase 1, is an enzyme that in humans is encoded by the IMPDH1 gene.[4][5]

Function[edit]

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.[4]

Clinical significance[edit]

Defects in the IMPDH1 gene are a cause of retinitis pigmentosa type 10 (RP10).[4][6][7]

See also[edit]

References[edit]

  1. ^ "Drugs that physically interact with Inosine monophosphate dehydrogenase 1 view/edit references on wikidata". 
  2. ^ "Human PubMed Reference:". 
  3. ^ "Mouse PubMed Reference:". 
  4. ^ a b c "Entrez Gene: IMP (inosine monophosphate) dehydrogenase 1". 
  5. ^ Natsumeda Y, Ohno S, Kawasaki H, Konno Y, Weber G, Suzuki K (March 1990). "Two distinct cDNAs for human IMP dehydrogenase". J. Biol. Chem. 265 (9): 5292–5. PMID 1969416. 
  6. ^ Kennan A, Aherne A, Palfi A, Humphries M, McKee A, Stitt A, Simpson DA, Demtroder K, Orntoft T, Ayuso C, Kenna PF, Farrar GJ, Humphries P (March 2002). "Identification of an IMPDH1 mutation in autosomal dominant retinitis pigmentosa (RP10) revealed following comparative microarray analysis of transcripts derived from retinas of wild-type and Rho(-/-) mice". Hum. Mol. Genet. 11 (5): 547–57. doi:10.1093/hmg/11.5.547. PMID 11875049. 
  7. ^ Bowne SJ, Sullivan LS, Blanton SH, Cepko CL, Blackshaw S, Birch DG, Hughbanks-Wheaton D, Heckenlively JR, Daiger SP (March 2002). "Mutations in the inosine monophosphate dehydrogenase 1 gene (IMPDH1) cause the RP10 form of autosomal dominant retinitis pigmentosa". Hum. Mol. Genet. 11 (5): 559–68. doi:10.1093/hmg/11.5.559. PMC 2585828Freely accessible. PMID 11875050. 

Further reading[edit]

External links[edit]

This article incorporates text from the United States National Library of Medicine, which is in the public domain.