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Protein Coding Gene : Sox5 SRY (sex determining region Y)-box 5

Primary Identifier  MGI:98367 Organism  mouse, laboratory
Chromosome  6 NCBI Gene Number  20678
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0)

Enables DNA-binding transcription factor activity, RNA polymerase II-specific and transcription cis-regulatory region binding activity. Involved in cartilage condensation; chondrocyte differentiation; and positive regulation of chondrocyte differentiation. Acts upstream of or within several processes, including negative regulation of DNA-templated transcription; neurogenesis; and regulation of timing of neuron differentiation. Part of transcription regulator complex. Is expressed in several structures, including alimentary system; embryo mesenchyme; genitourinary system; nervous system; and sensory organ. Orthologous to human SOX5 (SRY-box transcription factor 5).
PHENOTYPE: Homozygous null mice fail to breathe and die at birth exhibiting a narrow thoracic cage, irregularly mineralized sternum, cleft secondary palate, and delayed bone mineralization. Homozygotes for a transposon induced insertion die shortly after birth exhibiting cyanosis and respiratory distress. [provided by MGI curators]
  • synonyms:
  • Sox5,
  • MGI:2442476,
  • MGD-MRK-14506,
  • RIKEN cDNA A730017D01 gene,
  • AI528773,
  • SRY (sex determining region Y)-box 5,
  • A730017D01Rik,
  • expressed sequence AI528773,
  • MGI:2141442

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