SPG21 Back

spastic paraplegia 21 (autosomal recessive, Mast syndrome)

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NCBI Description of SPG21
The protein encoded by this gene was identified by a two-hybrid screen using CD4 as the bait. It binds to the hydrophobic C-terminal amino acids of CD4 which are involved in repression of T cell activation. The interaction with CD4 is mediated by the noncatalytic alpha/beta hydrolase fold domain of this protein. It is thus proposed that this gene product modulates the stimulatory activity of CD4. At least three different transcript variants encoding two different isoforms have been found for this gene.

Community Annotation of SPG21 Add / Edit SPG21: 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

SPG21 is highly significantly mutated in
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SPG21 is significantly mutated in
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SPG21 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 SPG21