HSD3B2

hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2

Ensembl:: ENSG00000203859
UniProt:: P26439
OMIM:: 613890
Synonyms:: SDR11E2

Cilia effects upon perturbation of HSD3B2

Ciliogenesis screen results (4 screens)

Kim2016: No effect
Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-4.29) PMID:26167766
Roosing et al. 2015 (siRNA) [siRNA]: Hyper-ciliogenesis (robust z=2.44, ciliated=56.3%) PMID:26595381
Kim et al. 2010 (siRNA) [siRNA]: Longer Cilia (Area per Cilia z=3.62) PMID:20393562

Phenotypes

Human ciliopathy phenotype:: congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency; congenital adrenal hyperplasia

Subcellular localization

cilia

Functional category

Ciliary assembly/disassembly

Function

An enzyme that is part of sterol synthesis, HSD3B1/HSD3B2 also found in several enzymes in cilia

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