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Protein Coding Gene : Dnm1l dynamin 1-like

Primary Identifier  MGI:1921256 Organism  mouse, laboratory
Chromosome  16 NCBI Gene Number  74006
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0)

Enables protein homodimerization activity. Involved in several processes, including organelle fission; regulation of ATP metabolic process; and regulation of organelle organization. Acts upstream of or within several processes, including calcium ion transport; mitocytosis; and protein localization to mitochondrion. Located in several cellular components, including brush border; mitochondrial outer membrane; and peroxisome. Is expressed in heart. Used to study dilated cardiomyopathy. Human ortholog(s) of this gene implicated in encephalopathy due to defective mitochondrial and peroxisomal fission 1 and optic atrophy 5. Orthologous to human DNM1L (dynamin 1 like).
PHENOTYPE: Mice homozygous for a knock-out allele exhibit embryonic lethality at E11.5 with internal hemorrhage and small size. Mice heterozygous for an ENU induced allele have dilated cardiomyopathy and congestive heart failure, homozygous are embryonic lethal with posterior truncation at E11.5. Brain isoform-specific KO results in ectopic dendrite growth in the hippocampus and enhanced sensorimotor gating. [provided by MGI curators]
  • synonyms:
  • expressed sequence AI450666,
  • Dnm1l,
  • 6330417M19Rik,
  • RIKEN cDNA 6330417M19 gene,
  • MGI:1195987,
  • Drp1,
  • dynamin-like protein 1,
  • MGI:2146435,
  • python,
  • dynamin 1-like,
  • Dnmlp1,
  • AI450666

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Canonical gene --> Exons in specific strains

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Canonical gene --> Transcripts in specific strains.

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Proteins

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3 Pathways

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