Zinc finger protein 57
The ZFP57 gene encodes a transcription factor. Mutations cause autosomal recessive transient neonatal diabetes mellitus type 1. Also a connection with hypomethylation syndrome is hypothesized.
Genetests:
Related Diseases:
References:
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Caliebe A et al. (2014) A familial disorder of altered DNA-methylation.
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2. |
Boonen SE et al. (2008) Clinical characterisation of the multiple maternal hypomethylation syndrome in siblings.
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3. |
Mackay DJ et al. (2008) Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57.
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4. |
OMIM.ORG article
Omim 612192
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5. |
Orphanet article
Orphanet ID 206724
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6. |
NCBI article
NCBI 346171
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7. |
Wikipedia article
Wikipedia EN (ZFP57)
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Update: Aug. 14, 2020