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Protein Coding Gene : Deaf1 DEAF1, transcription factor

Primary Identifier  MGI:1858496 Organism  mouse, laboratory
Chromosome  7 NCBI Gene Number  54006
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0)

Predicted to enable DNA-binding transcription repressor activity, RNA polymerase II-specific and RNA polymerase II transcription regulatory region sequence-specific DNA binding activity. Involved in several processes, including behavioral fear response; chordate embryonic development; and visual learning. Acts upstream of or within regulation of transcription by RNA polymerase II. Located in cytoplasm and nucleus. Part of RNA polymerase II transcription regulator complex. Is expressed in several structures, including bone; early conceptus; reproductive system; sensory organ; and urinary system. Human ortholog(s) of this gene implicated in Vulto-van Silfout-de Vries syndrome. Orthologous to human DEAF1 (DEAF1 transcription factor).
PHENOTYPE: Mice homozygous for a knock-out allele exhibit frequent exencephaly associated with neonatal lethality, rib cage abnormalities, and a low frequency of homeotic transformations of cervical segments but no presphenoid bone or cranial nerve defects; non-exencephalic survivors are healthy and fertile. [provided by MGI curators]
  • synonyms:
  • MGI:2142153,
  • expressed sequence AU042387,
  • suppressin,
  • Deaf1,
  • DEAF1, transcription factor,
  • RIKEN cDNA C230009B13 gene,
  • AU042387,
  • MGI:2443244,
  • NUDR,
  • C230009B13Rik

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1 Involved In Mutations

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Canonical gene --> Transcripts in specific strains.

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