PCDH11X

Chr X

protocadherin 11 X-linked

Also known as: PCDH-X, PCDH-Y, PCDH11, PCDH11Y, PCDH22, PCDHX, PPP1R119

NCBI Gene: 27328 ENSG00000102290 UniProt: Q9BZA7

The encoded protein is a calcium-dependent cell-adhesion protein with an extracellular domain containing 7 cadherin repeats that functions in cell-cell recognition essential for segmental development and function of the central nervous system. Mutations cause developmental dyslexia affecting language and reading abilities. This X-linked gene follows X-linked inheritance patterns and is not highly constrained against loss-of-function variants.

ResearchSummary from RefSeq, UniProt

This gene belongs to the protocadherin gene 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 major X/Y block of homology and its Y homolog, despite divergence leading to coding region changes, is the most closely related cadherin family member. The protein is thought to play a fundamental role in cell-cell recognition essential for the segmental development and function of the central nervous system. Disruption of this gene may be associated with developmental dyslexia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.56

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)

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