PTHLH

Chr 12AD

parathyroid hormone like hormone

Also known as: BDE2, HHM, PLP, PTHR, PTHRP

NCBI Gene: 5744 ENSG00000087494 UniProt: P12272 OMIM: 168470

The protein encoded by this gene is a neuroendocrine peptide that regulates cellular growth, development, and survival, and specifically controls endochondral bone development and epithelial-mesenchymal interactions during formation of mammary glands and teeth through its receptor PTH1R. Mutations cause brachydactyly type E2, characterized by shortened digits, and follow an autosomal dominant inheritance pattern. This gene is highly constrained against loss-of-function variants, indicating that such mutations are likely to have significant clinical consequences.

GeneReviews OMIM ResearchSummary from RefSeq, OMIM, UniProt

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]

GeneReviews OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Brachydactyly, type E2MIM #613382

UniProtBrachydactyly E2

Clinical highlights

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.48

LOEUF

LOF

Mechanism· G2P

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GeneReview available — PTHLH