PCDH11X Chromosome X

Protocadherin 11 X-linked
1 variant 1 Health Risk

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What This Gene Does
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]
Gene Info
Gene Group
"Non-clustered protocadherins|Protein phosphatase 1 regulatory subunits"
Locus Type
gene with protein product
Location
Xq21.31
Ensembl
ENSG00000102290
Key Variants
All Variants (1)
RSID Category Clinical Significance Conditions
RS140764964 Health Risk Conflicting classifications of pathogenicity
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