The ADAMTSL4 gene is located on the long arm of chromosome 1 at 1q21.2 and spans about 11.5 kb of genomic DNA with a genomic sequence consisting of 17 coding exons and two untranslated exons. The full-length mRNA is 4,209 bp and encodes a 1,074 amino acid protein with a molecular weight of 116.5 kDa. It comprises seven thrombospondin type 1 repeats (TSP1), one ADAM-TS Spacer 1 domain, a PLAC domain, and a leucine zipper domain.
Mutations in the ADAMTSL4 gene are found to be responsible for autosomal recessive isolated ectopia lentis (EL). EL is a rare condition characterized by partial or complete displacement of the lens from its space resulting from defective zonule formation.