Cell Junctions

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)