Disease-gene associations mined from literature

Literature associating CLPX and spinocerebellar ataxia type 28

CLPX [ENSP00000300107]

ATP-dependent Clp protease ATP-binding subunit clpX-like, mitochondrial; ATP-dependent specificity component of the Clp protease complex. Hydrolyzes ATP. Targets specific substrates for degradation by the Clp complex. Can perform chaperone functions in the absence of CLPP. Enhances the DNA-binding activity of TFAM and is required for maintaining a normal mitochondrial nucleoid structure. ATP- dependent unfoldase that stimulates the incorporation of the pyridoxal phosphate cofactor into 5-aminolevulinate synthase, thereby activating 5-aminolevulinate (ALA) synthesis, the first step in heme biosynthesis. Important for efficient erythropoiesis through upregulation of heme biosynthesis.

Synonyms:  CLPX,  A0A024R5X7,  H0YK07,  H0YM48,  O76031 ...

Linkouts:  STRING  Pharos  UniProt  OMIM