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Protein Coding Gene : Dtna dystrobrevin alpha

Primary Identifier  MGI:106039 Organism  mouse, laboratory
Chromosome  18 NCBI Gene Number  13527
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0)

Predicted to enable PDZ domain binding activity and phosphatase binding activity. Predicted to be involved in synaptic signaling. Located in synapse. Is expressed in several structures, including central nervous system; genitourinary system; gut; heart; and sensory organ. Human ortholog(s) of this gene implicated in cardiomyopathy and left ventricular noncompaction. Orthologous to human DTNA (dystrobrevin alpha).
PHENOTYPE: Homozygous targeted mutants exhibit skeletal and cardiac myopathies and impaired coordination. Neuromuscular junctions appear to form normally, but their postnatal maturation is compromised. Dtna mutations do not increase the severity of Dmd or Utrn mutants whose products are also part of the dystrophin-glycoprotein complex. [provided by MGI curators]
  • synonyms:
  • A0,
  • alpha-dystrobrevin,
  • MGI:1915272,
  • adbn,
  • Dtn,
  • dystrobrevin,
  • 87K protein,
  • MGD-MRK-33723,
  • dystrobrevin alpha,
  • Dtna,
  • RIKEN cDNA 2210407P21 gene,
  • 2210407P21Rik,
  • a-DB-1

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