DISEASES

Disease-gene associations mined from literature

Literature on BTBD1

BTBD1 [ENSP00000261721]

BTB/POZ domain-containing protein 1; Probable substrate-specific adapter of an E3 ubiquitin- protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins . Seems to regulate expression levels and/or subnuclear distribution of TOP1, via an unknown mechanism (By similarity). May play a role in mesenchymal differentiation where it promotes myogenic differentiation and suppresses adipogenesis (By similarity).

Synonyms:  BTBD1,  BTBD1p,  hBTBD1,  A0A024R224,  H0YL89 ...

Linkouts:  STRING  Pharos  UniProt  OMIM