rs2543020814

This variant is located in the LACTB gene.

ClinVar annotation

Uncertain Significance☆☆☆
1 submitter

not specified

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About LACTB

This gene encodes a mitochondrially-localized protein that has sequence similarity to prokaryotic beta-lactamases. Many of the residues responsible for beta-lactamase activity are not conserved in this protein, suggesting it may have a different enzymatic function. Increased expression of the related mouse gene was found to be associated with obesity. Alternative splicing results in multiple transcript variants encoding different protein isoforms. [provided by RefSeq, Dec 2013]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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