SC5DL Back

sterol-C5-desaturase (ERG3 delta-5-desaturase homolog, S. cerevisiae)-like

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NCBI Description of SC5DL
This gene encodes an enzyme of cholesterol biosynthesis. The encoded protein catalyzes the conversion of lathosterol into 7-dehydrocholesterol. Mutations in this gene have been associated with lathosterolosis. Alternatively spliced transcript variants encoding the same protein have been described.

Community Annotation of SC5DL Add / Edit SC5DL: Annotations

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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

SC5DL is highly significantly mutated in
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SC5DL is significantly mutated in
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SC5DL 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 SC5DL