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Protein Coding Gene : Mymk myomaker, myoblast fusion factor

Primary Identifier  MGI:1913389 Organism  mouse, laboratory
Chromosome  2 NCBI Gene Number  66139
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0)

Involved in myoblast fusion; plasma membrane fusion; and positive regulation of skeletal muscle hypertrophy. Acts upstream of or within myoblast fusion involved in skeletal muscle regeneration. Located in Golgi membrane and plasma membrane. Is expressed in several structures, including alimentary system; limb; skeletal musculature; and somite. Human ortholog(s) of this gene implicated in Carey-Fineman-Ziter syndrome. Orthologous to human MYMK (myomaker, myoblast fusion factor).
PHENOTYPE: Mice homozygous for a knock-out allele exhibit early postnatal lethality, paralysis, kyphosis and defective myoblast fusion and survival leading to the absence of differentiated muscle in the trunk, limb and head. [provided by MGI curators]
  • synonyms:
  • MGI:2138840,
  • AI131587,
  • expressed sequence AI131587,
  • Tmem8c,
  • RIKEN cDNA 1110002H13 gene,
  • transmembrane protein 8C,
  • Mymk,
  • myomaker, myoblast fusion factor,
  • 1110002H13Rik

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Genome

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Canonical gene --> CDSs in specific strains.

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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Mouse features --> Functions (GO terms)

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