Insights into the Role of Cell–Cell Junctions in Physiology and Disease - International Review of Cell and Molecular Biology - page 195

Table 5.1 Cell junctions and human diseases
Junction
component Disease phenotype

Adherens junctions
E-cadherin
(CDH1)

Endometrial carcinoma, ovarian carcinoma, gastric cancer,
breast cancer, and prostate cancer

P-cadherin
(CDH3)

Ectodermal dysplasia, ectrodactyly, and macular dystrophy

Hypotrichosis, congenital, with juvenile macular dystrophy

b -Catenin
(CTNNB1)

Colorectal cancer, ovarian cancer, hepatocellular carcinoma
Pilomatricoma, mental retardation

Desmosomes

Plakophilin 1
(PKP)

Ectodermal dysplasia-skin fragility syndrome

Plakophilin 2 Arrhythmogenic right ventricular dysplasia/cardiomyopathy

(ARVD/C)

Desmoplakin
(DSP)

ARVD/C
Naxos disease, Carvajal syndrome, striate palmoplantar
keratoderma

Lethal acantholytic epidermolysis bullosa, skin fragility
woolly-hair syndrome

Plakoglobin (JUP) Naxos disease, ARVD/C
Desmoglein 1
(DSG)

Striate palmoplantar keratoderma

Desmoglein 2 ARVD/C

Desmoglein 4 Autosomal-recessive hypotrichosis, recessive monilethrix

Tight junctions

Claudin 1
(CLDN)

Ichthyosis, sclerosing cholangitis

Claudin 14 Autosomal-recessive deafness disorder DFNB29

Claudin 16 Hypomagnesemia hypercalciuria with nephrocalcinosis

Claudin 19 Renal Mgþþ loss and vision loss

ZO-2 Familial hypercholanemia