DISEASES

Disease-gene associations mined from literature

Literature associating BCS1L and mitochondrial complex V (ATP synthase) deficiency nuclear type 4

BCS1L [ENSP00000413908]

Mitochondrial chaperone BCS1; Chaperone necessary for the assembly of mitochondrial respiratory chain complex III. Plays an important role in the maintenance of mitochondrial tubular networks, respiratory chain assembly and formation of the LETM1 complex.

Synonyms:  BCS1L,  BCS1Lp,  hBCS1L,  A0A024R467,  A0A2R8Y7T3 ...

Linkouts:  STRING  Pharos  UniProt