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NEDHELS

Chr 11AR

DEAF1 transcription factor

Also known as: MRD24, NEDHELS, NUDR, SPN, VSVS, ZMYND5

NCBI Gene: 10522 OMIM: 617171

This zinc finger transcription factor regulates its own promoter and target genes important for embryonic development. Mutations cause a neurodevelopmental disorder with hypotonia, impaired expressive language, and with or without seizures, inherited in an autosomal recessive pattern. Note that while RefSeq mentions autosomal dominant cognitive disability, the established OMIM phenotype follows autosomal recessive inheritance.

OMIM ResearchSummary from RefSeq, OMIM

This gene encodes a zinc finger domain-containing protein that functions as a regulator of transcription. The encoded proteins binds to its own promoter as well as to that of several target genes. Activity of this protein is important in the regulation of embryonic development. Mutations in this gene have been found in individuals with autosomal dominant cognitive disability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]

OMIM ResearchGenerating clinical summary…