Tissue expression
Cell line expression
Protein structure
NSDHL
NAD(P) dependent steroid dehydrogenase-likeH105e3, SDR31E1, XAP104
The protein encoded by this gene is localized in the endoplasmic reticulum and is involved in cholesterol biosynthesis. Mutations in this gene are associated with CHILD syndrome, which is a X-linked dominant disorder of lipid metabolism with disturbed cholesterol biosynthesis, and typically lethal in males. Alternatively spliced transcript variants with differing 5' UTR have been found for this gene. [provided by RefSeq, Jul 2008]
Top validated antibodies |
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Proteintech Group | ![]() |
12 references | Polyclonal |
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Novus Biologicals | ![]() |
2 references | Polyclonal |
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Atlas Antibodies | ![]() |
2 references | Polyclonal |
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LSBio | ![]() |
Polyclonal |
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Invitrogen Antibodies | ![]() |
Polyclonal |
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