LACTB lactamase beta
Gene ID: 114294, updated on 7-Jul-2024Gene type: protein coding
Also known as: G24; MRPL56
- See all available tests in GTR for this gene
- Go to complete Gene record for LACTB
- Go to Variation Viewer for LACTB variants
Summary
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]
Associated conditions
See all available tests in GTR for this gene
Description | Tests |
---|---|
An atlas of genetic influences on human blood metabolites. GeneReviews: Not available | |
Biological, clinical and population relevance of 95 loci for blood lipids. GeneReviews: Not available | |
Discovery and refinement of loci associated with lipid levels. GeneReviews: Not available | |
Human metabolic individuality in biomedical and pharmaceutical research. GeneReviews: Not available |
Genomic context
- Location:
- 15q22.2
- Sequence:
- Chromosome: 15; NC_000015.10 (63121861..63142061)
- Total number of exons:
- 7
Variation
Resource | Links for this gene |
---|---|
ClinVar | Variants reported to ClinVar |
dbVar | Studies and variants |
SNP | Variation Viewer for LACTB variants |
Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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