Gene: [17q/ITGB4] integrin, beta 4 (antigen CD104); epidermolysis bullosa, junctional, with pyloric atresia (MIM:226730);

FUN

The integrin beta-4 subunit is highly enriched in hemidesmosomes, specialized structures providing firm mechanical links between basal lamina and the intermediate filament cytoskeleton. A 303-amino acid segment of the ITGB4 cytoplasmic domain that encompasses the first 2 N-terminal fibronectin type III (FNIII) domains and their interconnecting sequence is necessary for mediating ITGB4 signaling events and incorporation into hemidesmosomes (Hogervorst-1991)."

REL

GEM:20q112/ITGB4BP.

REF

CLO,LOC,FAG "Hogervorst F &: Eur J Biochem, 199, N2, 425-433, 1991
CLO,SEQ,GEN "Iacovacci S &: Mammal Genome, 8, N6, 448-450, 1997
MUT,ASS "Vidal F &: Nature Genet, 10, N2, 229-234, 1995

SWI

 SWISSPROT: P16144

KEY

mem, recp

CLA

coding, basic

LOC

17 q

MIM

 MIM: 147557