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IMPDH1

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IMPDH1
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesIMPDH1, IMPD, IMPD1, IMPDH-I, LCA11, RP10, sWSS2608, IMP (inosine 5'-monophosphate) dehydrogenase 1, inosine monophosphate dehydrogenase 1
External IDsOMIM: 146690; MGI: 96567; HomoloGene: 68096; GeneCards: IMPDH1; OMA:IMPDH1 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_011829
NM_001302933
NM_001302934

RefSeq (protein)

NP_001289862
NP_001289863
NP_035959

Location (UCSC)Chr 7: 128.39 – 128.41 MbChr 6: 29.2 – 29.22 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/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.[5][6]

Function

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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.[5]

Clinical significance

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Defects in the IMPDH1 gene are a cause of retinitis pigmentosa type 10 (RP10).[5][7][8]

See also

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References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000106348Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000003500Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ a b c "Entrez Gene: IMP (inosine monophosphate) dehydrogenase 1".
  6. ^ 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. doi:10.1016/S0021-9258(19)34120-1. PMID 1969416.
  7. ^ 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.
  8. ^ 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 2585828. PMID 11875050.

Further reading

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