Disease-gene associations mined from literature

Literature associating SREBF2 and C syndrome

SREBF2 [ENSP00000354476]

Sterol regulatory element binding transcription factor 2; Transcriptional activator required for lipid homeostasis. Regulates transcription of the LDL receptor gene as well as the cholesterol and to a lesser degree the fatty acid synthesis pathway (By similarity). Binds the sterol regulatory element 1 (SRE-1) (5'-ATCACCCCAC-3') found in the flanking region of the LDRL and HMG-CoA synthase genes; Basic helix-loop-helix proteins

Synonyms:  SREBF2,  SREBF2p,  hSREBF2,  A0A024R1Q0,  DKFZP434N1610 ...

Linkouts:  STRING  Pharos  UniProt  OMIM