NAT8

From Wikipedia, the free encyclopedia
Jump to: navigation, search
N-acetyltransferase 8 (GCN5-related, putative)
Identifiers
Symbols NAT8 ; ATase2; CML1; GLA; Hcml1; TSC501; TSC510
External IDs OMIM606716 MGI1915646 HomoloGene9479 GeneCards: NAT8 Gene
EC number 2.3.1.-
Orthologs
Species Human Mouse
Entrez 9027 68396
Ensembl ENSG00000144035 ENSMUSG00000030004
UniProt Q9UHE5 Q9JIY7
RefSeq (mRNA) NM_003960 NM_023455
RefSeq (protein) NP_003951 NP_075944
Location (UCSC) Chr 2:
73.87 – 73.87 Mb
Chr 6:
85.83 – 85.83 Mb
PubMed search [1] [2]

N-acetyltransferase 8 is a protein that in humans is encoded by the NAT8 gene.[1]

Clinical relevance[edit]

Mutations in the NAT8 gene have been associated with chronic kidney disease.[2]

References[edit]

  1. ^ "Entrez Gene: N-acetyltransferase 8 (GCN5-related". 
  2. ^ Suhre K, Shin SY, Petersen AK, Mohney RP, Meredith D, Wägele B, Altmaier E, Deloukas P, Erdmann J, Grundberg E, Hammond CJ, de Angelis MH, Kastenmüller G, Köttgen A, Kronenberg F, Mangino M, Meisinger C, Meitinger T, Mewes HW, Milburn MV, Prehn C, Raffler J, Ried JS, Römisch-Margl W, Samani NJ, Small KS, Wichmann HE, Zhai G, Illig T, Spector TD, Adamski J, Soranzo N, Gieger C (September 2011). "Human metabolic individuality in biomedical and pharmaceutical research". Nature 477 (7362): 54–60. doi:10.1038/nature10354. PMID 21886157. 

Further reading[edit]