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 8.0.0) 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] |