IMPDH1

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IMP (inosine 5'-monophosphate) dehydrogenase 1
PDB 1jcn EBI.jpg
PDB rendering based on 1jcn.
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols IMPDH1 ; IMPD; IMPD1; LCA11; RP10; sWSS2608
External IDs OMIM146690 MGI96567 HomoloGene68096 ChEMBL: 1822 GeneCards: IMPDH1 Gene
EC number 1.1.1.205
Orthologs
Species Human Mouse
Entrez 3614 23917
Ensembl ENSG00000106348 ENSMUSG00000003500
UniProt P20839 P50096
RefSeq (mRNA) NM_000883 NM_011829
RefSeq (protein) NP_000874 NP_035959
Location (UCSC) Chr 7:
128.03 – 128.05 Mb
Chr 6:
29.2 – 29.22 Mb
PubMed search [1] [2]

Inosine-5'-monophosphate dehydrogenase 1, also known as IMP dehydrogenase 1, is an enzyme that in humans is encoded by the IMPDH1 gene.[1][2]

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.[1]

Clinical significance[edit]

Defects in the IMPDH1 gene are a cause of retinitis pigmentosa type 10 (RP10).[1][3][4]

See also[edit]

References[edit]

  1. ^ a b c "Entrez Gene: IMP (inosine monophosphate) dehydrogenase 1". 
  2. ^ 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. 
  3. ^ 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. 
  4. ^ 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[edit]

External links[edit]


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