Hemidesmosomal Proteins, Genes & Expression Patterns
Human Information in BLUE --- Mouse Information in RED

**References are in the process of being updated**

Protein
w/ PubMed links by days old
Gene
w/ Locus Link
& Chromosome
Expression Pattern
w/ refrence link to PubMed abstract
Diseases
w/ OMIM link
Keratin 5
K5,CK5,EBS2

KRT5

12q12-q13
15 cM

Basal layer of stratified epithelia
Lloyd 1995
Epidermolysis Bullosa Simplex (EBS)
Skin Blistering upon mechanical stress, cytolysis and keratin aggregates in basal layer
Keratin 14
K14,CK14, EBS3, EBS4

KRT14

17q12-q21
11 58.60 cM

Basal layer of stratified epithelia
Outer Root Sheath (ORS) of hair follicle
Coulombe 1989

Epidermolysis Bullosa Simplex (EBS)
Skin Blistering upon mechanical stress, cytolysis and keratin aggregates in basal layer

Plectin
PCN, PLTN

PLEC1

8q24
15 44.00 cM


Basal lamina
Schaapveld 1998

EBS with Muscular Dystrophy
Basal epidermal and muscle degeneration
Bullous Pemphigoid Antigen 1
BP240 BPAG1

BPAG1

6p12-p11
1 16.50 cM

Basal lamina of hemidesmosomal plaque
Eady 1994
Bullous Pemphigoid
Autoimmune disease with subepidermal blistering
Bullous Pemphigoid Antigen 2
BP180, BPAG2
Collagen XVII

COL17A1

10q24.3
19 49.0 cM

Type II transmembrane component of hemidesmosomes
Li 1992

Junctional Epidermolysis Bullosa (JEB)
Severe skin blistering due to separation at epidermal/dermal junction

ß4 Integrin

ITGB4

17q11-qter

Base of epithelium, hemidesmosome plaque
Dowling 1996
Junctional Epidermolysis Bullosa with Pyloric Atresia
Severe skin blistering due to separation at epidermal/dermal junction
Alpha 6 Integrin
CD49f

ITGA6

2q31.1
2 38.00 cM

Transmembrane component of hemidesmosome plaque
Base of epithelium
Dowling 1996

Junctional Epidermolysis Bullosa (JEB)
Severe skin blistering due to separation at epidermal/dermal junction
Laminin Alpha 5 Chain
KIAA1907

LAMA5

20q13.2-q13.3
2 106.00 cM

Basal lamina epithelium

Junctional Epidermolysis Bullosa (JEB)
Severe skin blistering due to separation at epidermal/dermal junction
Collagen VII
EBD1, EBR1, EBDCT


COL7A1

3p21.1
9 61.00 cM

Collagenous component of the anchoring fibrils in basal lamina Uitto 1991

Epidermolysis Bullosa Dystrophica
Severe blistering and scarring
Heinonen 1999

Epidermolysis Bullosa Acquisita (EBA)