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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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| Atlas Antibodies |  HPA000248 |
2 references | Polyclonal |
WB
ICC
IHC
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| Proteintech Group | 15111-1-AP |
7 references | Polyclonal |
WB
EL
ICC
IHC
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| Novus Biologicals | NBP1-83306 |
2 references | Polyclonal |
WB
ICC
IHC
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| Invitrogen Antibodies | 15111-1-AP |
Polyclonal |
WB
ICC
IHC
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| Cusabio Biotech Co., Ltd | CSB-PA618994LA01HU |
Polyclonal |
WB
EL
ICC
IHC
|
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