NAT8L

N-acetyltransferase 8 like, the group of GCN5 related N-acetyltransferases

Basic information

Region (hg38): 4:2059327-2069089

Links

ENSG00000185818 ∙ NCBI:339983 ∙ OMIM:610647 ∙ HGNC:26742 ∙ Uniprot:Q8N9F0 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• N-acetylaspartate deficiency (Limited), mode of inheritance: Unknown
• N-acetylaspartate deficiency (Limited), mode of inheritance: AR

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
N-acetylaspartate deficiency	AR	General	Genetic knowledge may be beneficial related to issues such as selection of optimal supportive care, informed medical decision-making, prognostic considerations, and avoidance of unnecessary testing	Biochemical; Neurologic	11310630; 15328569; 16802720; 19807691

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the NAT8L gene.

• not_specified (64 variants)
• not_provided (12 variants)
• NAT8L-related_disorder (1 variants)
• Microcephaly (1 variants)
• N-acetylaspartate_deficiency (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the NAT8L gene is commonly pathogenic or not. These statistics are base on transcript: NM_000178557.4. Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous			1	8	1	10
missense			61	3		64
nonsense						0
start loss						0
frameshift			2			2
splice donor/acceptor (+/-2bp)						0
Total	0	0	64	11	1

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
NAT8L	protein_coding	protein_coding	ENST00000423729	3	9578

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
		0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.15	69	141	0.490	0.0000103	1881
Missense in Polyphen		15	54.013	0.27771		447
Synonymous	-0.811	76	67.5	1.13	0.00000513	677
Loss of Function	2.37	0	6.54	0.00	3.65e-7	93

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Plays a role in the regulation of lipogenesis by producing N-acetylaspartate acid (NAA), a brain-specific metabolite. NAA occurs in high concentration in brain and its hydrolysis plays a significant part in the maintenance of intact white matter. Promotes dopamine uptake by regulating TNF-alpha expression. Attenuates methamphetamine-induced inhibition of dopamine uptake. {ECO:0000269|PubMed:19524112}.
• Disease: DISEASE: N-acetylaspartate deficiency (NACED) [MIM:614063]: A metabolic disorder resulting in truncal ataxia, marked developmental delay, seizures, and secondary microcephaly. {ECO:0000269|PubMed:19807691}. Note=The disease is caused by mutations affecting the gene represented in this entry.
• Pathway: Alanine, aspartate and glutamate metabolism - Homo sapiens (human);Metapathway biotransformation Phase I and II;Metabolism of amino acids and derivatives;Metabolism;Amino acid synthesis and interconversion (transamination) (Consensus)

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.114

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Gene ontology

• Biological process: cellular amino acid biosynthetic process
• Cellular component: cytoplasm;mitochondrion;mitochondrial matrix;integral component of membrane;rough endoplasmic reticulum membrane;mitochondrial membrane
• Molecular function: aspartate N-acetyltransferase activity