Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome
July 2020
in “
American journal of human genetics
”
SREBF1 Sterol Regulatory Element Binding Transcription Factor 1 IFAP syndrome SREBP1 proteolytic cleavage nuclear translocation transcriptional activity cholesterol biosynthesis fatty acid biosynthesis keratin genes keratinocyte apoptosis lipid metabolism sterol homeostasis skin abnormalities sparse hair photophobia SREBP signaling cholesterol treatments lipid treatments
Studysummary This study identified mutations in the SREBF1 gene that impair SREBP1 function, potentially contributing to IFAP syndrome by affecting skin, hair, and eye development.
Automatically generated from the study's abstract, not written by a person, and not a review of the full paper. Not medical advice or a treatment recommendation. Read the original study, and consult a qualified healthcare professional before changing treatment. Full disclaimer
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