DISEASES

Disease-gene associations mined from literature

Literature associating DCAF7 and Diamond-Blackfan anemia 1

DCAF7 [ENSP00000483236]

DDB1- and CUL4-associated factor 7; Involved in craniofacial development. Acts upstream of the EDN1 pathway and is required for formation of the upper jaw equivalent, the palatoquadrate. The activity required for EDN1 pathway function differs between the first and second arches (By similarity). Associates with DIAPH1 and controls GLI1 transcriptional activity. Could be involved in normal and disease skin development. May function as a substrate receptor for CUL4-DDB1 E3 ubiquitin-protein ligase complex. ; Belongs to the WD repeat DCAF7 family.

Synonyms:  DCAF7,  DCAF7p,  hDCAF7,  A0A087WWI6,  P61962 ...

Linkouts:  STRING  Pharos  UniProt