Primary Identifier | MGI:3649059 | Organism | mouse, laboratory |
Chromosome | 17 | NCBI Gene Number | 653016 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Involved in myoblast fusion involved in skeletal muscle regeneration; plasma membrane fusion; and skeletal muscle organ development. Located in Golgi membrane; endoplasmic reticulum membrane; and plasma membrane. Is expressed in diaphragm; foregut; limb; skeletal musculature; and tail paraxial mesenchyme. Human ortholog(s) of this gene implicated in Carey-Fineman-Ziter syndrome. Orthologous to human MYMX (myomixer, myoblast fusion factor). PHENOTYPE: Mice homozygous for a knock-out allele exhibit neonatal lethality with cyanosis, primary atelectasis and skeletal muscle defects associated with failure of myoblast fusion. [provided by MGI curators] |