DISEASES

Disease-gene associations mined from literature

Literature associating PEX6 and autosomal recessive spinocerebellar ataxia 3

PEX6 [ENSP00000303511]

Peroxisome assembly factor 2; Involved in peroxisome biosynthesis. Required for stability of the PTS1 receptor. Anchored by PEX26 to peroxisome membranes, possibly to form heteromeric AAA ATPase complexes required for the import of proteins into peroxisomes.

Synonyms:  PEX6,  PEX6p,  hPEX6,  A0A024RD09,  Q13608 ...

Linkouts:  STRING  Pharos  UniProt  OMIM