GEOapplication/xmlftp://ftp.ncbi.nlm.nih.gov/geo/series/GSE319nnn/GSE319132/primaryOK200TranscriptomicsDanio rerioExpression profiling by high throughput sequencinghttps://www.ncbi.nlm.nih.gov/geo/query/acc.cgi?acc=GSE319132GEOGSEfalseHSD17B7 is required for Sensory Hair Cells Function by Regulating Cholesterol SynthesisCholesterol homeostasis is fundamental to cellular function, and its disruption underlies a wide range of human diseases. However, the contribution of cholesterol biosynthesis to auditory physiology remains poorly understood. HSD17B7 (17β-Hydroxysteroid dehydrogenase type 7) catalyzes the conversion of zymosterone to zymosterol, a key step in the post-lanosterol cholesterol biosynthetic pathway. Here, we found that Hsd17b7 is highly enriched in sensory hair cells of zebrafish and mice. The deficiency of Hsd17b7 led to reduced intracellular cholesterol levels in HEI-OC1 cells and zebrafish hair cells, resulting in compromised MET and acoustic startle responses. In parallel, we identified a heterozygous nonsense variant in HSD17B7 (c.544G>T; p.E182*) in an individual with bilateral profound hearing loss. Expression of the p.E182* mutation failed to rescue the abnormal MET and acoustic startle response in hsd17b7 mutants. Mechanistically, the p.E182* mutation disrupted the interaction between HSD17B7 and the ER retention receptor RER1, resulting in aberrant subcellular localization and altered cholesterol distribution. Together, our findings suggest a conserved and essential role for HSD17B7-mediated cholesterol biosynthesis in sensory hair cell function and identify HSD17B7 as a candidate gene for sensorineural hearing loss.2026/04/29GSE319132GSM9512031GSM951203224995319132Danio rerio