Disease-gene associations mined from literature

Literature associating CBR4 and centronuclear myopathy 6 with fiber-type disproportion

CBR4 [ENSP00000303525]

3-ketoacyl-[acyl-carrier-protein] reductase beta subunit; The heterotetramer with HSD17B8 has NADH-dependent 3- ketoacyl-acyl carrier protein reductase activity, and thereby plays a role in mitochondrial fatty acid biosynthesis. Within the heterotetramer, HSD17B8 binds NADH; CBR4 binds NADPD. The homotetramer has NADPH-dependent quinone reductase activity. Both homotetramer and the heterotetramer have broad substrate specificity and can reduce 9,10- phenanthrenequinone, 1,4-benzoquinone and various other o-quinones and p-quinones (in vitro); Short chain dehydrogenase/reductase superfamily

Synonyms:  CBR4,  CBR4p,  hCBR4,  D6RAV8,  D6RGF2 ...

Linkouts:  STRING  Pharos  UniProt