Entrez Summary: This gene encodes a member of a family of proteins that are structurally related to snake venom disintegrins and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. Expression of this gene has been used as a maternal serum marker for pre-natal development. Alternative splicing results in multiple transcript variants encoding different isoforms. Shorter isoforms are secreted, while longer isoforms are membrane-bound form. [provided by RefSeq, Jan 2014].
UniProt Summary: Involved in skeletal muscle regeneration, specifically at the onset of cell fusion. Also involved in macrophage-derived giant cells (MGC) and osteoclast formation from mononuclear precursors (By similarity). {ECO:0000250}.
Pfam DomainsGO Terms
Pfam Domains
Pep M12B propep
Disintegrin
ADAM CR
Reprolysin
GO Terms
myoblast fusion
cell-cell fusion
syncytium formation by plasma membrane fusion
syncytium formation
myotube differentiation
metallopeptidase activity
metalloendopeptidase activity
SH3 domain binding
positive regulation of angiogenesis
positive regulation of vasculature development
striated muscle cell differentiation
muscle cell differentiation
regulation of angiogenesis
regulation of vasculature development
extracellular matrix organization
extracellular structure organization
muscle structure development
anatomical structure formation involved in morphogenesis
cell adhesion
biological adhesion
regulation of anatomical structure morphogenesis
proteolysis
positive regulation of developmental process
positive regulation of multicellular organismal process
extracellular region
CRISPR Data
Compound HitMost Correlated Genes in ChemogenomicsTissues where Essential in the Avana Dataset (DepMap 20Q1)