PTCH2

Function

This gene encodes a transmembrane receptor of the patched gene family. The encoded protein may function as a tumor suppressor in the hedgehog signaling pathway.[5]

Clinical significance

Alterations in this gene have been associated with nevoid basal cell carcinoma syndrome, basal cell carcinoma, medulloblastoma, and susceptibility to congenital macrostomia.[5]

gollark: What's your % uncertainty and % uncertainty % uncertainty?
gollark: Based on a flawed apiometric measurement.
gollark: We just synchronise state over certain backchannels.
gollark: It *is* bee bee apio, yes.
gollark: AQA assembly language is some sort of weird ARM derivative with 13 registers and 1024 words of RAM.

References

  1. GRCh38: Ensembl release 89: ENSG00000117425 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000028681 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. "Entrez Gene: Patched 2".

Further reading

This article incorporates text from the United States National Library of Medicine, which is in the public domain.


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