NAT8 N-acetyltransferase 8 (putative)
Gene ID: 9027, updated on 17-Sep-2024Gene type: protein coding
Also known as: GLA; CML1; CCNAT; Hcml1; ATase2; TSC501; TSC510
- See all available tests in GTR for this gene
- Go to complete Gene record for NAT8
- Go to Variation Viewer for NAT8 variants
Summary
This gene, isolated using the differential display method to detect tissue-specific genes, is specifically expressed in kidney and liver. The encoded protein shows amino acid sequence similarity to N-acetyltransferases. A similar protein in Xenopus affects cell adhesion and gastrulation movements, and may be localized in the secretory pathway. A highly similar paralog is found in a cluster with this gene. [provided by RefSeq, Sep 2008]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A genome-wide metabolic QTL analysis in Europeans implicates two loci shaped by recent positive selection. GeneReviews: Not available | |
| An atlas of genetic influences on human blood metabolites. GeneReviews: Not available | |
| Genetic determinants influencing human serum metabolome among African Americans. GeneReviews: Not available | |
| Genetic loci influencing kidney function and chronic kidney disease. GeneReviews: Not available | |
| Genome-wide association study of a heart failure related metabolomic profile among African Americans in the Atherosclerosis Risk in Communities (ARIC) study. GeneReviews: Not available | |
| Human metabolic individuality in biomedical and pharmaceutical research. GeneReviews: Not available | |
| New loci associated with kidney function and chronic kidney disease. GeneReviews: Not available | |
| Using multiple measures for quantitative trait association analyses: application to estimated glomerular filtration rate. GeneReviews: Not available |
Genomic context
- Location:
- 2p13.1
- Sequence:
- Chromosome: 2; NC_000002.12 (73640723..73642422, complement)
- Total number of exons:
- 2
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for NAT8 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
- Variation ViewerRelated Variants
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