ASS1

Chr 9q34.11

argininosuccinate synthase 1

Aliases:: CTLN1
MANE:: ENST00000352480.10

OMIM: 603470 ↗NCBI: 445 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

ASS1 · P00966

v62025-08-01

Predicted Aligned Error matrix for ASS1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

95.5/ 100

Very high

412 residues

Confidence breakdown

Very high(≥ 90)91%
Confident(70–90)7%
Low(50–70)2%
Very low(< 50)0%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Hyperammonaemia
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomal
Undiagnosed metabolic disorders
BIALLELIC, autosomal or pseudoautosomal
Childhood onset dystonia, chorea or related movement disorder

Disease associations (Open Targets)

citrullinemia type I
0.86
citrullinemia
0.75
hereditary disease
0.47
acute neonatal citrullinemia type I
0.37
Intellectual disability
0.37
adult-onset citrullinemia type I
0.37
citrullinemia type II
0.36
disturbances of sensation of smell and taste
0.34
autoimmune disorder of central nervous system
0.33
alcohol drinking
0.30

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Argininosuccinate synthase

One of the enzymes of the urea cycle, the metabolic pathway transforming neurotoxic amonia produced by protein catabolism into inocuous urea in the liver of ureotelic animals. Catalyzes the formation of arginosuccinate from aspartate, citrulline and ATP and together with ASL it is responsible for the biosynthesis of arginine in most body tissues