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Protein Coding Gene : Smarcad1 SNF2 related chromatin remodeling ATPase with DExD box 1

Primary Identifier  MGI:95453 Organism  mouse, laboratory
Chromosome  6 NCBI Gene Number  13990
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0)

Predicted to enable DNA binding activity; chromatin binding activity; and nucleosome array spacer activity. Predicted to be involved in DNA double-strand break processing; chromosome separation; and regulation of macromolecule metabolic process. Located in heterochromatin and nucleus. Is expressed in several structures, including alimentary system; central nervous system; eye; genitourinary system; and integumental system. Used to study asphyxiating thoracic dystrophy. Human ortholog(s) of this gene implicated in BASAN syndrome and adermatoglyphia. Orthologous to human SMARCAD1 (SNF2 related chromatin remodeling ATPase with DExD box 1).
PHENOTYPE: Homozygotes for a targeted null mutation exhibit retarded growth, impaired fertility, skeletal dysplasias, and peri- and postnatal lethality. Mutant phenotypes are influenced by genetic background. [provided by MGI curators]
  • synonyms:
  • AV081750,
  • Etl1,
  • enhancer trap locus 1,
  • AW226546,
  • mKIAA1122,
  • expressed sequence AW226546,
  • expressed sequence AV081750,
  • DNA segment, Chr 6, Pasteur Institute 1,
  • MGI:2141670,
  • MGI:2141618,
  • MGD-MRK-7699,
  • D6Pas1,
  • SNF2 related chromatin remodeling ATPase with DExD box 1,
  • Smarcad1,
  • MGI:93794,
  • MGD-MRK-9660

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