| PCDH11X | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | ||||||||||||||||||||||||||||||||||||||||||||||||||
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| Wikidata | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Protocadherin 11 X-linked, also known as PCDH11X, is a protein which in humans is encoded by the PCDH11X gene. [5] [6]
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]
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.
Protocadherins (Pcdhs) are the largest mammalian subgroup of the cadherin superfamily of homophilic cell-adhesion proteins. They were discovered by Shintaro Suzuki's group, when they used PCR to find new members of the cadherin family. The PCR fragments that corresponded to protocadherins were found in vertebrate and invertebrate species. This prevalence in a wide range of species suggested that the fragments were part of an ancient cadherin and were thus termed "Protocadherins" as the "first cadherins". Of the approximately 70 Pcdh genes identified in mammalian genomes, over 50 are located in tightly linked gene clusters on the same chromosome. Until recently, it was assumed that this kind of organization can only be found in vertebrates, but Octopus bimaculoides has 168 genes of which nearly three-quarters are found in tandem clusters with the two largest clusters compromising 31 and 17 genes, respectively.
Protocadherin-15 is a protein that in humans is encoded by the PCDH15 gene.
Protocadherin beta-10 is a protein that in humans is encoded by the PCDHB10 gene.
Protocadherin-1 is a protein that in humans is encoded by the PCDH1 gene.
Protocadherin gamma-C3 is a protein that in humans is encoded by the PCDHGC3 gene.
Protocadherin-8 is a protein that in humans is encoded by the PCDH8 gene.
Protocadherin beta-13 is a protein that in humans is encoded by the PCDHB13 gene.
Protocadherin beta-5 is a protein that in humans is encoded by the PCDHB5 gene.
Protocadherin-17 is a protein that in humans is encoded by the PCDH17 gene.
Protocadherin beta-2 is a protein that in humans is encoded by the PCDHB2 gene.
Protocadherin alpha-6 is a protein that in humans is encoded by the PCDHA6 gene.
Protocadherin-10 is a protein that in humans is encoded by the PCDH10 gene.
Protocadherin-7 is a protein that in humans is encoded by the PCDH7 gene.
Protocadherin-12 is a protein that in humans is encoded by the PCDH12 gene.
Protocadherin alpha-5 is a protein that in humans is encoded by the PCDHA5 gene.
Protocadherin gamma-A12 is a protein that in humans is encoded by the PCDHGA12 gene.
Protocadherin-18 is a protein that in humans is encoded by the PCDH18 gene.
Protocadherin gamma-A11 is a protein that in humans is encoded by the PCDHGA11 gene.
Protocadherin beta-12 is a protein that in humans is encoded by the PCDHB12 gene.
Protocadherin-20 is a protein that in humans is encoded by the PCDH20 gene.
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