DISEASES

Disease-gene associations mined from literature

Literature associating NUB1 and Leber congenital amaurosis

NUB1 [ENSP00000454264]

Negative regulator of ubiquitin-like proteins 1; Specific down-regulator of the NEDD8 conjugation system. Recruits NEDD8, UBD, and their conjugates to the proteasome for degradation. Isoform 1 promotes the degradation of NEDD8 more efficiently than isoform 2.

Synonyms:  NUB1,  NUB1p,  hNUB1,  C9J7X7,  C9JRT6 ...

Linkouts:  STRING  Pharos  UniProt