PTHLH Antibody – Rabbit

The protein encoded by this gene is a member of the parathyroid hormone family. This hormone, via its receptor, PTHR1, regulates endochondral bone development and epithelial-mesenchymal interactions during the formation of the mammary glands and teeth. It is responsible for most cases of humoral hypercalcemia of malignancy, and mutations in this gene are associated with brachydactyly type E2 (BDE2). Alternatively spliced transcript variants have been found for this gene. There is also evidence 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. [provided by RefSeq, Nov 2013]

PTHrP: a member of the parathyroid hormone family. This hormone regulates endochondral bone development and epithelial-mesenchymal interactions during the formation of the mammary glands and teeth. This hormone is involved in lactation possibly by regulating the mobilization and transfer of calcium to the milk. The receptor of this hormone, PTHR1, is responsible for most cases of humoral hypercalcemia of malignancy. Three alternatively spliced isoforms have been described.

Protein type: Secreted; Secreted, signal peptide

Chromosomal Location of Human Ortholog: 12p12.1-p11.2

Cellular Component: nucleoplasm; Golgi apparatus; extracellular space; cytoplasm; extracellular region

Molecular Function: peptide hormone receptor binding; hormone activity

Biological Process: epidermis development; negative regulation of transcription factor activity; negative regulation of chondrocyte differentiation; female pregnancy; G-protein signaling, adenylate cyclase activating pathway; osteoblast development; negative regulation of cell proliferation; cAMP metabolic process; epithelial cell differentiation; cell-cell signaling; regulation of gene expression; positive regulation of cell proliferation; positive regulation of cAMP biosynthetic process; protein processing; skeletal development; surfactant homeostasis; alveolus development; endochondral ossification; endoderm development

Disease: Brachydactyly, Type E2