Literature associating SREBF1 and ichthyosis follicularis-alopecia-photophobia syndrome
Sterol regulatory element binding transcription factor 1; Transcriptional activator required for lipid homeostasis. Regulates transcription of the LDL receptor gene as well as the fatty acid and to a lesser degree the cholesterol synthesis pathway (By similarity). Binds to the sterol regulatory element 1 (SRE-1) (5'-ATCACCCCAC-3'). Has dual sequence specificity binding to both an E-box motif (5'-ATCACGTGA-3') and to SRE-1 (5'-ATCACCCCAC-3'); Basic helix-loop-helix proteins
Synonyms: SREBF1, SREBF1p, hSREBF1, B5MD58, F6V242 ...