PCDH1

PCDH1 or Protocadherin-1 is a protein that in humans is encoded by the PCDH1 gene. This gene is a member of the protocadherin family, a subfamily of the cadherin superfamily. The encoded protein consists of an extracellular domain containing 7 cadherin repeats, a transmembrane domain and a cytoplasmic tail that differs from those of the classical cadherins. The gene is located in a chromosome region containing other members of the protocadherin family. The function of this protein is not yet known.

Function

Protocadherin-1 is a member of the cadherin superfamily. Cadherins are a type of protein found in the cell membrane and are responsible for cell adhesion. They play a crucial role in maintaining the structure and function of tissues and organs. Protocadherin-1, like other members of the protocadherin family, is thought to play a role in the establishment and function of specific cell-cell connections in the brain.

Clinical significance

Mutations in the PCDH1 gene have been associated with asthma susceptibility. Studies have shown that variations in this gene may increase the risk of developing asthma, particularly in people who are exposed to environmental factors such as tobacco smoke.

See also

• Cadherin
• Protocadherin
• Asthma

References

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External links

• PCDH1 at the National Center for Biotechnology Information