PTHLH is a member of the parathyroid hormone family which regulates endochondral bone development and epithelial-mesenchymal interactions during the formation of the mammary glands and teeth via its receptor, PTHR1. In most cases of humoral hypercalcemia of malignancy, PTHLH is responsible. Alternatively spliced transcript variants have been found for this gene and mutations in this gene are also associated with brachydactyly type E2 (BDE2). Furthermore, evidence have been found for alternative translation initiation from non-AUG (CUG and GUG) start sites, downstream of the initiator AUG codon, resulting in nuclear forms of this hormone.