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LMBR1, also known as Limb region 1 protein homolog, has 3 isoforms, a 490 amino acid isoform 1 that is 55 kDa, a 228 amino acid isoform 2 that is 26 kDa and a 531 amino acid isoform that is 60 kDa; widely expressed in heart and pancreas; is a putative membrane receptor. Current research is being performed on several diseases and disorders including triphalangeal thumb-polysyndactyly syndrome, triphalangeal thumb, triphalangeal thumb type I, polydactyly, preaxial type ii, acheiropody, polydactyly, syndactyly, tuberculosis, cblf, acropectoral syndrome, congenital amputation, and syndactyly type 4. This protein is involved with the embryonic digit morphogenesis pathways.
