parathyroid hormone-like hormone

Symbol

PTHLH (may also be known as: None)

Organism

Human

Description

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]

Orthologs

SymbolSpecies
pthlha Danio rerio
Pthlh Mus musculus
Pthlh Rattus norvegicus

Links to external resources

Changes associated with this gene

GO Terms

GO IDGO TermGO Category
GO:0001501 skeletal system development biological_process
GO:0001958 endochondral ossification biological_process
GO:0002076 osteoblast development biological_process
GO:0007189 activation of adenylate cyclase activity by G-protein signaling pathway biological_process
GO:0007267 cell-cell signaling biological_process
GO:0007492 endoderm development biological_process
Show more GO terms