ADSL

Chr 22q13.1

adenylosuccinate lyase

MANE:: ENST00000623063.3

OMIM: 608222 ↗NCBI: 158 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

ADSL · P30566

v62025-08-01

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

Mean pLDDT

96.6/ 100

Very high

484 residues

Confidence breakdown

Very high(≥ 90)94%
Confident(70–90)4%
Low(50–70)1%
Very low(< 50)1%

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
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
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
Arthrogryposis
BIALLELIC, autosomal or pseudoautosomal
Childhood onset dystonia, chorea or related movement disorder

Disease associations (Open Targets)

adenylosuccinate lyase deficiency
0.85
neurodegenerative disease
0.53
hereditary disease
0.49
Intellectual disability
0.46
Epileptic encephalopathy
0.46
Inability to walk
0.43
Progressive neurologic deterioration
0.43
Generalized myoclonic seizure
0.43
Difficulty standing
0.43
Severe global developmental delay
0.43

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

Protein function (UniProt)

Adenylosuccinate lyase

Catalyzes two non-sequential steps in de novo AMP synthesis: converts (S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate (SAICAR) to fumarate plus 5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamide, and thereby also contributes to de novo IMP synthesis, and converts succinyladenosine monophosphate (SAMP) to AMP and fumarate