MYF5

MYF5 (Myogenic Factor 5) is a Protein Coding gene. Diseases associated with MYF5 include Rhabdomyosarcoma and Skeletal Muscle Cancer. Among its related pathways are miRs in Muscle Cell Differentiation and Myogenesis. Gene Ontology (GO) annotations related to this gene include sequence-specific DNA binding and RNA polymerase II proximal promoter sequence-specific DNA binding. An important paralog of this gene is MYOD1.

Full Name

MYOGENIC FACTOR 5

Function

Transcriptional activator that promotes transcription of muscle-specific target genes and plays a role in muscle differentiation (PubMed:29887215).

Together with MYOG and MYOD1, co-occupies muscle-specific gene promoter core region during myogenesis. Induces fibroblasts to differentiate into myoblasts. Probable sequence specific DNA-binding protein.

Biological Process

Camera-type eye development Source: Ensembl
Cartilage condensation Source: Ensembl
Embryonic skeletal system morphogenesis Source: Ensembl
Extracellular matrix organization Source: Ensembl
Muscle cell fate commitment Source: BHF-UCL
Muscle organ development Source: ProtInc
Muscle tissue morphogenesis Source: Ensembl
Ossification Source: Ensembl
Positive regulation of myoblast differentiation Source: GO_Central
Positive regulation of skeletal muscle fiber development Source: GO_Central
Regulation of cell-matrix adhesion Source: Ensembl
Regulation of transcription by RNA polymerase II Source: GO_Central
Skeletal muscle cell differentiation Source: GO_Central
Skeletal muscle tissue development Source: ProtInc
Somitogenesis Source: Ensembl

Cellular Location

Nucleus

Involvement in disease

Ophthalmoplegia, external, with rib and vertebral anomalies (EORVA):
An autosomal recessive disorder characterized by congenital nonprogressive external ophthalmoplegia, ptosis, scoliosis, torticollis, and vertebral and rib anomalies.