PCDH11X
Protein-coding gene in the species Homo sapiens From Wikipedia, the free encyclopedia
Protocadherin 11 X-linked, also known as PCDH11X, is a protein which in humans is encoded by the PCDH11X gene.[5][6]
PCDH11X | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Aliases | PCDH11X, PCDH-X, PCDH11, PCDHX, PPP1R119, protocadherin 11 X-linked, PCDH22, PCDH11Y, PCDH-Y | ||||||||||||||||||||||||||||||||||||||||||||||||||
External IDs | OMIM: 300246; MGI: 2442849; HomoloGene: 13194; GeneCards: PCDH11X; OMA:PCDH11X - orthologs | ||||||||||||||||||||||||||||||||||||||||||||||||||
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Function
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 (PCDH11Y), 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. Neuronal self-avoidance is intricately linked to protocadherin activity. It also plays a role in structural cell-to-cell adherence. Transcripts arising from alternative splicing encode isoforms with variable cytoplasmic domains.[5]
Clinical significance
In a genome-wide association study, the PCDH11X gene has been linked as a risk factor in late onset Alzheimer's disease,[7] but other studies on different populations [8][9][10][11] could not confirm the initial association. The clinical significance of this gene is unclear, and the gene might play different roles in different population specific contexts.
References
Further reading
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