PCDH11X
From SNPedia
is a | gene |
is | mentioned by |
Full name | protocadherin 11 X-linked |
EntrezGene | 27328 |
PheGenI | 27328 |
VariationViewer | 27328 |
ClinVar | PCDH11X |
GeneCards | PCDH11X |
dbSNP | 27328 |
Diseases | PCDH11X |
SADR | 27328 |
HugeNav | 27328 |
wikipedia | PCDH11X |
PCDH11X | |
gopubmed | PCDH11X |
EVS | PCDH11X |
HEFalMp | PCDH11X |
MyGene2 | PCDH11X |
23andMe | PCDH11X |
UniProt | Q9BZA7 |
Ensembl | ENSG00000102290 |
OMIM | 300246 |
# SNPs | 5 |
Max Magnitude | Chromosome position | Summary | |
---|---|---|---|
rs2524861 | 0 | 91,809,191 | |
rs2573905 | 0 | 92,147,221 | |
rs4568761 | 0 | 92,184,068 | |
rs5941047 | 0 | 92,176,386 | |
rs5984894 | 0 | 92,138,738 |
The protocadherin 11 PCDH11X gene belongs to the protocadherin gene family, a subfamily of the cadherin superfamily. The gene is located in a major X/Y block of homology and its Y chromosome homolog, despite coding region changes, is still 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.[1]
SNPs of consequence reported for PCDH11X include:
- rs5984894, associated with increased risk for Alzheimer's disease in females