Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Moldiag Diseases Genes Support Contact

Inosine-5'-monophosphate dehydrogenase 1

The IMPDH1 gene encodes an enzyme involved in inosine metabolism which regulates cell growth. Mutations cause autosomal dominant Leber congenital amaurosis type 11 and retinitis pigmentosa type 10.


Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA
Research Method Multiplex Ligation-Dependent Probe Amplification
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Leber congenital amaurosis 11



Bowne SJ et al. (2006) Spectrum and frequency of mutations in IMPDH1 associated with autosomal dominant retinitis pigmentosa and leber congenital amaurosis.

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Natsumeda Y et al. (1990) Two distinct cDNAs for human IMP dehydrogenase.

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Collart FR et al. (1988) Cloning and sequence analysis of the human and Chinese hamster inosine-5'-monophosphate dehydrogenase cDNAs.

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Gu JJ et al. (1994) Assignment of the human type I IMP dehydrogenase gene (IMPDH1) to chromosome 7q31.3-q32).

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Doggett NA et al. (1993) Identification and regional localization of a human IMP dehydrogenase-like locus (IMPDHL1) at 16p13.13.

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Kennan A et al. (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.

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Bowne SJ et al. (2002) Mutations in the inosine monophosphate dehydrogenase 1 gene (IMPDH1) cause the RP10 form of autosomal dominant retinitis pigmentosa.

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Aherne A et al. (2004) On the molecular pathology of neurodegeneration in IMPDH1-based retinitis pigmentosa.

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Wada Y et al. (2005) Screen of the IMPDH1 gene among patients with dominant retinitis pigmentosa and clinical features associated with the most common mutation, Asp226Asn.

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Bischof JM et al. (2006) Genome-wide identification of pseudogenes capable of disease-causing gene conversion.

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Coussa RG et al. (2015) Genotype and Phenotype Studies in Autosomal Dominant Retinitis Pigmentosa (adRP) of the French Canadian Founder Population.

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NCBI article

NCBI 3614 external link

OMIM.ORG article

Omim 146690 external link

Orphanet article

Orphanet ID 122649 external link

Wikipedia article

Wikipedia EN (IMPDH1) external link
Update: Aug. 14, 2020
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