Gene: PTHLH

Alternate names for this Gene: BDE2|HHM|PLP|PTHR|PTHRP

Gene 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.

Gene is located in Chromosome: 12

Location in Chromosome : 12p11.22

Description of this Gene: parathyroid hormone like hormone

Type of Gene: protein-coding

rs267606985 in PTHLH gene and BRACHYDACTYLY, TYPE E2 PMID 20170896 2010 Deletion and point mutations of PTHLH cause brachydactyly type E.

rs1272192 in PTHLH gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.