DISEASES

Disease-gene associations mined from literature

Literature associating SPRR1A and osteogenesis imperfecta type 4

SPRR1A [ENSP00000357751]

Small proline-rich protein 1A; 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; Small proline rich proteins

Synonyms:  SPRR1A,  SPRR1Ap,  hSPRR1A,  P35321,  P35321p ...

Linkouts:  STRING  Pharos  UniProt