KEGG   VARIANT: 3675v1
Entry
3675v1                      Variant                                
Name
ITGA3 mutation
Type
Loss of function
Gene
ITGA3  integrin alpha-3 preproprotein [KO:K06482]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 605025
Network
nt06539  Cytoskeleton in muscle cells
nt06548  Integrin signaling
Disease
H00586  Epidermolysis bullosa, junctional
H02500  Congenital interstitial lung disease with nephrotic syndrome and epidermolysis bullosa
Reference
PMID:25810266
  Authors
Yalcin EG, He Y, Orhan D, Pazzagli C, Emiralioglu N, Has C
  Title
Crucial role of posttranslational modifications of integrin alpha3 in interstitial lung disease and nephrotic syndrome.
  Journal
Hum Mol Genet 24:3679-88 (2015)
DOI:10.1093/hmg/ddv111
LinkDB

DBGET integrated database retrieval system