Gene Symbol | PTHLH |
Entrez Gene ID | 5744 |
Full Name | parathyroid hormone like hormone |
Synonyms | BDE2,HHM,PLP,PTHR,PTHRP |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Humoral hypercalcemia of malignancy (1); Brachydactyly, type E2, 613382 (3) |