• 30
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
NAT8L (HGNC:26742) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
N-acetyltransferase 8 like
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
FLJ37478, Hcml3, Shati
%HI
40.87(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0.86(Read more about gnomAD pLI score)
LOEUF
0.46(Read more about gnomAD LOEUF score)
Cytoband
4p16.3
Genomic Coordinates
GRCh37/hg19: chr4:2061054-2070816 NCBI Ensembl UCSC
GRCh38/hg38: chr4:2059327-2069089 NCBI Ensembl UCSC
MANE Select Transcript
NM_178557.4 ENST00000423729.3 (Read more about MANE Select)
Function
Catalyzes the synthesis of N-acetylaspartate acid (NAA) from L-aspartate and acetyl-CoA (PubMed:19524112, PubMed:19807691, PubMed:20385109). Promotes dopamine uptake by regulating TNF-alpha expression (By similarity). Attenuates methamphetamine-induced inhibition of dopamine uptake (PubMed:20385109). {ECO:0000250|UniProtKB:Q3UGX3, ECO:0000269|PubMed:19524112, ECO:0000269|PubMed:19807691, ECO:0000269|PubMed:20385109}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-14223
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Last Evaluated:
08/22/2016

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)

Genomic View

Select assembly: (NC_000004.11) (NC_000004.12)