NSDHL Back

NAD(P) dependent steroid dehydrogenase-like

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NCBI Description of NSDHL
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.

Community Annotation of NSDHL Add / Edit NSDHL: Annotations

No community annotations yet for NSDHL.
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Figure notes


• "Mouse over" a mutation to see details.
• Missense green saturation indicates evolutionary conservation of the mutated positions.
• Red hashes in protein strip are splice sites.
• Blue-white-red bars are log2 copy ratio distributions (–1 to +1) from Zack et al. (2013).


Legend

NSDHL is highly significantly mutated in
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NSDHL is significantly mutated in
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NSDHL is near significance in
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Click on a tumor type to see its full list of significant genes.

Data details


• Mutation list for NSDHL