Gene: PCDH12
Alternate names for this Gene: DMJDS1|VE-cadherin-2|VECAD2
Gene Summary: 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.
Gene is located in Chromosome: 5
Location in Chromosome : 5q31.3
Description of this Gene: protocadherin 12
Type of Gene: protein-coding
rs531630376 in
PCDH12 gene and
Cerebellar Ataxia
PMID 30459466 2019 Homozygous PCDH12 variants result in phenotype of cerebellar ataxia, dystonia, retinopathy, and dysmorphism.
rs531630376 in
PCDH12 gene and
Dysmorphic facies
PMID 30459466 2019 Homozygous PCDH12 variants result in phenotype of cerebellar ataxia, dystonia, retinopathy, and dysmorphism.
rs531630376 in
PCDH12 gene and
Dystonia
PMID 30459466 2019 Homozygous PCDH12 variants result in phenotype of cerebellar ataxia, dystonia, retinopathy, and dysmorphism.
rs531630376 in
PCDH12 gene and
Exudative retinopathy
PMID 30459466 2019 Homozygous PCDH12 variants result in phenotype of cerebellar ataxia, dystonia, retinopathy, and dysmorphism.
rs146725009 in
PCDH12 gene and
MICROCEPHALY, SEIZURES, SPASTICITY, AND BRAIN CALCIFICATIONS
PMID 27164683 2016 Loss of function of PCDH12 underlies recessive microcephaly mimicking intrauterine infection.
PMID 28804758 2017 Brain calcifications and PCDH12 variants.