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 |
