DISEASES

Disease-gene associations mined from literature

Literature associating PJA1 and autosomal recessive Alport syndrome

PJA1 [ENSP00000355014]

E3 ubiquitin-protein ligase Praja-1; Has E2-dependent E3 ubiquitin-protein ligase activity. Ubiquitinates MAGED1 antigen leading to its subsequent degradation by proteasome (By similarity). May be involved in protein sorting.

Synonyms:  PJA1,  PJA1p,  hPJA1,  K7EPI8,  K7EPW5 ...

Linkouts:  STRING  Pharos  UniProt  OMIM