|
Protein
|
Gene with
Locus link |
Expression
Pattern
|
Diseases
with OMIM link
& Mutants (see mutation table for more details) |
|
Desmoplakin
|
6p24 |
Striate
palmoplantar keratoderma (SPPK) |
|
|
Desmoglein 1
|
18q12.1 |
Suprabasal
layers of the epidermis Arnemann 1993; Elias 2001 |
SPPK |
|
|
DSG2
18q12.1 |
All
epithelia & heart Shafer
1994, King
1997 |
|
|
Desmoglein 3
|
18q12.1-q12.2 |
Lower
layers of epidermis & is high in stratified squamous epithelia e.g.
oral mucosa. Limbus and conjunctiva. Amagai 1996; Messent 2000 |
Pemphigus
Vulgaris |
|
Desmocollin 1
|
18q12.1 |
Suprabasal layers
of stratified tissues such as epidermis and tongue. Lymph nodes |
|
|
Desmocollin 2
|
18q12.1 |
All tissues, tumors
and cell lines known to have desmosomes Nuber
1995 |
|
|
Desmocollin 3
|
18q12.1 |
Basal and immediately suprabasal layers in stratified epithelia. Limbus and conjunctiva Legan1994; King 1995; Chidgey 1997; Messent 2000 |
|
|
Plakoglobin
|
17q21 |
All
desmosomes and all adherens junctions Cowin
1983,
1986;
Franke 1987a
1987b |
Naxos
Disease
PG null mice die from E10.5 onward due to severe heart defects & epidermal necrosis & acantholysis. |
|
Plakophilin 1a, 1b
|
PKP1 1q31.3 |
PKP1a
& 1b are found in the nuclei of many cell types. 1a is found in desmosomes
from suprabasal layers of complex & stratified epithelia and the ORS
of hair follicles. Schmidt 1997; Heid 1994 |
Ectodermal dysplasia |
|
Plakophilin 2a, 2b
|
12p11 |
PKP2a,
b are found in nuclei of most cell types
& at desmosomal plaques in most desmosome forming cells including heart. Mertens 1996 |
|
|
Plakophilin 3
|
11p15 |
In
the desmosomes and nuclei of all simple and stratified epithelia except
liver. Bonne 1999, Schmidt 1999 |
|
|
Plakophilin 4
|
PKP4 |
In the desmosomes
and adherens junctions of epithelia & endothelia. Hatzfeld 1996 |
