ELMO2
Function
Involved in cytoskeletal rearrangements required for phagocytosis of apoptotic cells and cell motility. Acts in association with DOCK1 and CRK. Was initially proposed to be required in complex with DOCK1 to activate Rac Rho small GTPases. May enhance the guanine nucleotide exchange factor (GEF) activity of DOCK1.
Involvement in disease
Vascular malformation, primary intraosseous
VMPI
An autosomal recessive, rare malformation characterized by non-neoplastic severe expansions of blood vessels, usually seen in the vertebral column and in the skull. The most commonly affected bones in the skull are the mandible and the maxilla, and life-threatening bleeding after a simple tooth extraction is frequently observed.
None
The disease is caused by variants affecting the gene represented in this entry.
Tissue Specificity
Widely expressed, with a higher expression in skeletal muscle, kidney and placenta.
Cellular localization
- Cytoplasm
- Cytoplasm
- Cytosol
- Membrane
Alternative names
CED12A, KIAA1834, ELMO2, Engulfment and cell motility protein 2, Protein ced-12 homolog A, hCed-12A