The ELMO2 gene encodes engulfment and cell motility protein 2. This protein interacts with the dedicator of cyto-kinesis 1 protein. Similarity to a C. elegans protein suggests that this protein may function in phagocytosis of apoptotic cells and in cell migration. Studies in mice models have shown that the ELMO2 protein may play a role in the regulation of cell proliferation and migration during the development of cerebral cortex.
Mutations in this gene have been known to cause an autosomal recessive condition called Vascular Malformation, Osseous (VMOS), characterized by localized lesions of arteriovenous, capillary, or lymphatic origin.
The ELMO2 gene is located on the long arm of chromosome 20. It spans a length of 66 kb. The Elmo2 protein consists of 720 amino acid residues with a molecular mass of 82 kDa.
See Saudi Arabia > Cetinkaya et al., 2016
Cetinkaya et al., (2016) described two Saudi female siblings and one female Iraqi patient with VMOS. These patients were born to consanguineous parents. Whole exome sequencing identified a homozygous intronic splice acceptor site mutation (c.1802_1G>C) in the ELMO2 gene in the Saudi patients, which was confirmed by Sanger sequencing. The Iraqi patient was found to have a g.45031191_45037128del5938ins330 complex mutation in the same gene. The father of the Iraqi patient was found to be heterozygous for this complex rearrangement. Functional analysis using affected cells showed a significant reduction in ELMO2 transcription and loss of ELMO2 with concomitant downregulation of DOCK1. The authors concluded that ELMO2 was a crucial intermediate signalling molecule in RAC1-dependent control of vascular stability in dermal bones.