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Protein Coding Gene : Smcr8 Smith-Magenis syndrome chromosome region, candidate 8 homolog (human)
Primary Identifier  MGI:2444720 Organism  mouse, laboratory
Chromosome  11 NCBI Gene Number  237782
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0)

Predicted to enable protein kinase binding activity and protein kinase inhibitor activity. Predicted to contribute to guanyl-nucleotide exchange factor activity. Involved in regulation of autophagy. Located in cytoplasm; postsynapse; and presynapse. Orthologous to human SMCR8 (SMCR8-C9orf72 complex subunit).
PHENOTYPE: Mouse embryonic fibroblasts homozygous for a knock-out allele show impaired autophagy induction, a reduced autophagic flux, and abnormal expression of lysosomal enzymes. [provided by MGI curators]
  • synonyms:
  • Smith-Magenis syndrome chromosome region, candidate 8 homolog (human),
  • 2310076G09Rik,
  • Smcr8,
  • RIKEN cDNA D030073L15 gene,
  • MGI:1916935,
  • expressed sequence AI642055,
  • RIKEN cDNA 2310076G09 gene,
  • D030073L15Rik,
  • AI642055,
  • MGI:2144244
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