Background information
EGFLAM is a 1,017 amino acid secreted protein containing three EGF-like domains, two fibronectin type-III domains, and three laminin G-like domains. Colocalizing with bassoon, CtBP and dystroglycan in photoreceptor synaptic terminals, EGFLAM is involved in retinal photoreceptor ribbon synapse formation. EGFLAM may also promote matrix assembly and cell adhesion. Existing as five alternatively spliced isoforms, the gene encoding EGFLAM maps to human chromosome 5p13.2. Chromosome 5 makes up approximately 6% of the human genome and contains 181 million base pairs, which encode 1,000 genes. Cockayne syndrome, Treacher Collins syndrome, acute myelogenous leukemias and myelodysplastic syndrome are associated with genes present on chromosome 5.
