N-acetyltransferase 8 is a protein that in humans is encoded by the NAT8 gene.[5]

NAT8
Identifiers
AliasesNAT8, ATase2, CML1, GLA, Hcml1, TSC501, TSC510, CCNAT, N-acetyltransferase 8 (putative)
External IDsOMIM: 606716; MGI: 1915646; HomoloGene: 9479; GeneCards: NAT8; OMA:NAT8 - orthologs
EC number2.3.1.80
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_003960

NM_023455
NM_001362060

RefSeq (protein)

NP_003951

NP_075944
NP_001348989

Location (UCSC)Chr 2: 73.64 – 73.64 MbChr 6: 85.81 – 85.81 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Clinical relevance

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Mutations in the NAT8 gene have been associated with chronic kidney disease.[6]

References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000144035Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000030004Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ "Entrez Gene: N-acetyltransferase 8 (GCN5-related".
  6. ^ 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. Bibcode:2011Natur.477...54S. doi:10.1038/nature10354. PMC 3832838. PMID 21886157.

Further reading

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