CDH9

From WikiMD's medical encyclopedia

CDH9 is a gene that in humans encodes the protein Cadherin 9, type 2 (T2-cadherin). It is a member of the cadherin superfamily, integral membrane proteins that mediate calcium-dependent cell-cell adhesion.

Function

The encoded protein is a type II classical cadherin from the cadherin superfamily, integral membrane proteins that mediate calcium-dependent cell-cell adhesion. Mature cadherin proteins are composed of a large N-terminal extracellular domain, a single membrane-spanning domain, and a small, highly conserved C-terminal cytoplasmic domain. Type II (atypical) cadherins are defined based on their lack of a HAV cell adhesion recognition sequence specific to type I cadherins. This particular cadherin is expressed specifically in the cerebral cortex and is putatively involved in synaptic adhesion, axon outgrowth and guidance.

Clinical significance

Mutations in the CDH9 gene have been associated with autism spectrum disorder and attention deficit hyperactivity disorder (ADHD).

See also

References


External links

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