ABHD5 Back

abhydrolase domain containing 5

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NCBI Description of ABHD5
The protein encoded by this gene belongs to a large family of proteins defined by an alpha/beta hydrolase fold, and contains three sequence motifs that correspond to a catalytic triad found in the esterase/lipase/thioesterase subfamily. It differs from other members of this subfamily in that its putative catalytic triad contains an asparagine instead of the serine residue. Mutations in this gene have been associated with Chanarin-Dorfman syndrome, a triglyceride storage disease with impaired long-chain fatty acid oxidation. Sequence Note: This RefSeq record was created from transcript and genomic sequence data because no single transcript was available for the full length of the gene. The extent of this transcript is supported by transcript alignments.

Community Annotation of ABHD5 Add / Edit ABHD5: Annotations

No community annotations yet for ABHD5.
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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

ABHD5 is highly significantly mutated in
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ABHD5 is significantly mutated in
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ABHD5 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 ABHD5