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Homozygous PCDH12 mutation is associated with cerebellar ataxia, dystonia, retinopathy, and dysmorphism.
Genome-wide analysis to determine the genetic cause of a microcephaly syndrome; found that loss of function of PCDH12 leads to recessive congenital microcephaly with profound developmental disability
PCDH12 may play an important role in human placental development, and proteolytic cleavage in response to external factors, such as cytokines and pathological settings, regulates its activity
A putative association was also found between protocadherin 12 and cortical folding (asymmetry coefficient of gyrification index).
The reactivity to acetylcholine and the circumferential mid-wall stress decreased with ageing in the PCDH12(-/-) mice, as opposed to the increase observed in the wild types.
PCDH12 has a unique expression pattern and its deficiency does not lead to conspicuous abnormalities; it is the first specific marker for both glycogen-rich trophoblasts and mesangial cells.
Loss of PCDH12 leads to morphological alterations of the placenta and to notable changes in its gene expression profile.
This gene belongs to the protocadherin gene family, a subfamily of the cadherin superfamily. The encoded protein consists of an extracellular domain containing 6 cadherin repeats, a transmembrane domain and a cytoplasmic tail that differs from those of the classical cadherins. The gene localizes to the region on chromosome 5 where the protocadherin gene clusters reside. The exon organization of this transcript is similar to that of the gene cluster transcripts, notably the first large exon, but no significant sequence homology exists. The function of this cellular adhesion protein is undetermined but mouse protocadherin 12 does not bind catenins and appears to have no affect on cell migration or growth.
, VE-cadherin 2
, vascular cadherin-2
, vascular endothelial cadherin 2
, vascular endothelial cadherin-2
, protocadherin 14