Protocadherin alpha 1

Protocadherin alpha 1

Protocadherin alpha 1, also known as PCDHA1, is a protein that is encoded by the PCDHA1 gene in humans. It belongs to the protocadherin family, which is a group of cell adhesion molecules involved in various developmental processes.

Structure

PCDHA1 is a transmembrane protein consisting of extracellular, transmembrane, and intracellular domains. The extracellular domain contains multiple cadherin repeats, which are responsible for mediating cell-cell adhesion. The intracellular domain interacts with various signaling molecules, allowing PCDHA1 to participate in intracellular signaling pathways.

Function

PCDHA1 plays a crucial role in the development and maintenance of the nervous system. It is primarily expressed in the brain, particularly in regions involved in neuronal development and synaptic plasticity. PCDHA1 is involved in the formation and maintenance of neuronal connections, as well as the regulation of synaptic strength.

Clinical Significance

Mutations in the PCDHA1 gene have been associated with neurodevelopmental disorders, including autism spectrum disorders (ASD) and intellectual disabilities. These mutations can disrupt the normal function of PCDHA1, leading to abnormal neuronal connectivity and impaired synaptic plasticity. Understanding the role of PCDHA1 in these disorders may provide insights into their underlying mechanisms and potential therapeutic targets.

Internal Links

- Protocadherin: Provides an overview of the protocadherin family and its role in cell adhesion. - Cell adhesion molecules: Explores the general functions and types of cell adhesion molecules. - Neuronal development: Discusses the processes involved in the development of the nervous system. - Synaptic plasticity: Provides an understanding of the mechanisms underlying synaptic plasticity. - Autism spectrum disorders: Explores the characteristics and causes of ASD. - Intellectual disabilities: Discusses the causes and impact of intellectual disabilities.

Categories

-: Includes articles related to proteins. -: Includes articles related to cell adhesion molecules. -: Includes articles related to neurodevelopmental disorders. -: Includes articles related to autism spectrum disorders. -: Includes articles related to intellectual disabilities.

Templates

-

: Indicates that the article is a stub related to proteins.

-

This cell adhesion molecule related article is a stub. You can help WikiMD by expanding it.

Indicates that the article is a stub related to cell adhesion molecules.

-

This neurodevelopmental disorder related article is a stub. You can help WikiMD by expanding it.

Indicates that the article is a stub related to neurodevelopmental disorders.

-

This autism spectrum disorder related article is a stub. You can help WikiMD by expanding it.

Indicates that the article is a stub related to autism spectrum disorders.

-

Indicates that the article is a stub related to intellectual disabilities.

References

1. Doe, J. et al. (Year). "Title of the research paper." Journal Name, Volume(Issue), Page range. DOI: [DOI number] 2. Smith, A. et al. (Year). "Title of the research paper." Journal Name, Volume(Issue), Page range. DOI: [DOI number]