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

Symbol	Species
pthlha	Danio rerio
Pthlh	Mus musculus
Pthlh	Rattus norvegicus

Links to external resources

Changes associated with this gene

Identifier	Name	Type	Tissues	Organism	Gene	Data	Actions
DAA2760	Hypermethylation of PTHLH is positively correlated with age	Molecular	blood	Human	PTHLH	—

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GO Terms

GO ID	GO Term	GO 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
GO:0007565	female pregnancy	biological_process
GO:0008284	positive regulation of cell proliferation	biological_process
GO:0008285	negative regulation of cell proliferation	biological_process
GO:0008544	epidermis development	biological_process
GO:0010468	regulation of gene expression	biological_process
GO:0016485	protein processing	biological_process
GO:0030819	positive regulation of cAMP biosynthetic process	biological_process
GO:0030855	epithelial cell differentiation	biological_process
GO:0032330	regulation of chondrocyte differentiation	biological_process
GO:0032331	negative regulation of chondrocyte differentiation	biological_process
GO:0043129	surfactant homeostasis	biological_process
GO:0043433	negative regulation of sequence-specific DNA binding transcription factor activity	biological_process
GO:0046058	cAMP metabolic process	biological_process
GO:0048286	lung alveolus development	biological_process
GO:0060649	mammary gland bud elongation	biological_process
GO:0060659	nipple sheath formation	biological_process
GO:0005576	extracellular region	cellular_component
GO:0005615	extracellular space	cellular_component
GO:0005622	intracellular	cellular_component
GO:0005634	nucleus	cellular_component
GO:0005730	nucleolus	cellular_component
GO:0005737	cytoplasm	cellular_component
GO:0005794	Golgi apparatus	cellular_component
GO:0005179	hormone activity	molecular_function
GO:0051428	peptide hormone receptor binding	molecular_function
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