Orphanet: integrin subunit beta 4

Search for a gene

ITGB4 - integrin subunit beta 4

Synonym(s) : CD104
Previous symbols and names : integrin, beta 4
Type : gene with protein product
Chromosomal location : 17q25.1
OMIM: 147557
HGNC: 6158
UniProtKB: P16144
Genatlas: ITGB4
GenCC: ITGB4
Ensembl: ENSG00000132470
IUPHAR-DB: 2458
Reactome: P16144
LOVD: ITGB4

Diseases list

Disease-causing germline mutation(s) in Aplasia cutis congenita ORPHA:1114
Disease-causing germline mutation(s) in Epidermolysis bullosa simplex with pyloric atresia ORPHA:158684
Disease-causing germline mutation(s) in Intermediate generalized junctional epidermolysis bullosa ORPHA:79402
Disease-causing germline mutation(s) in Junctional epidermolysis bullosa with pyloric atresia ORPHA:79403
Disease-causing germline mutation(s) in Localized junctional epidermolysis bullosa ORPHA:251393

: Assessed

Additional information

Patient-centred resources for this gene

Diagnostic tests (22)

Research activities on this gene

Specialised Social Services

Eurordis directory

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.

Orphanet is part of the Gene Curation Coalition, a global effort to harmonise gene-level resources.