SLC6A8 Back

solute carrier family 6 (neurotransmitter transporter, creatine), member 8

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NCBI Description of SLC6A8

The protein encoded by this gene is a plasma membrane protein whose function is to transport creatine into and out of cells. Defects in this gene can result in X-linked creatine deficiency syndrome. Multiple transcript variants encoding different isoforms have been found for this gene.

Community Annotation of SLC6A8 Add / Edit SLC6A8: 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

SLC6A8 is highly significantly mutated in
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SLC6A8 is significantly mutated in
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SLC6A8 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 SLC6A8