DISEASES

Disease-gene associations mined from literature

Literature associating SPRR1B and Dowling-Degos disease

SPRR1B [ENSP00000306461]

Cornifin-B; Cross-linked envelope protein of keratinocytes. It is a keratinocyte protein that first appears in the cell cytosol, but ultimately becomes cross-linked to membrane proteins by transglutaminase. All that results in the formation of an insoluble envelope beneath the plasma membrane. Can function as both amine donor and acceptor in transglutaminase-mediated cross-linkage; Belongs to the cornifin (SPRR) family.

Synonyms:  SPRR1B,  SPRR1Bp,  hSPRR1B,  P22528,  P22528p ...

Linkouts:  STRING  Pharos  UniProt  OMIM