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.
Genetests:
Related Diseases:
References:
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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
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OMIM.ORG article
Omim 146690
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Orphanet article
Orphanet ID 122649
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15. |
Wikipedia article
Wikipedia EN (IMPDH1)
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Update: Aug. 14, 2020