IMPDH1

Protein-coding gene in the species Homo sapiens From Wikipedia, the free encyclopedia

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]

AliasesIMPDH1, IMPD, IMPD1, IMPDH-I, LCA11, RP10, sWSS2608, IMP (inosine 5'-monophosphate) dehydrogenase 1, inosine monophosphate dehydrogenase 1
External IDsOMIM: 146690; MGI: 96567; GeneCards: IMPDH1
PDBOrtholog search: PDBe RCSB
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IMPDH1
Identifiers
AliasesIMPDH1, IMPD, IMPD1, IMPDH-I, LCA11, RP10, sWSS2608, IMP (inosine 5'-monophosphate) dehydrogenase 1, inosine monophosphate dehydrogenase 1
External IDsOMIM: 146690; MGI: 96567; GeneCards: IMPDH1
Available structures
PDBOrtholog search: PDBe RCSB
Enzyme activity
EC #BRENDAExPASyKEGGMetaCyc
1.1.1.205
Orthologs
DatabasesNCBI: entry; OMA: entry
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
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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.[5]

Clinical significance

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

See also

References

Further reading

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