PAICS

Chr 4q12

phosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthase

Aliases:: ADE2H1, AIRC
MANE:: ENST00000512576.3

OMIM: 172439 ↗NCBI: 10606 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

PAICS · P22234

v62025-08-01

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

Mean pLDDT

95.8/ 100

Very high

425 residues

Confidence breakdown

Very high(≥ 90)94%
Confident(70–90)5%
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)

Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

phosphoribosylaminoimidazole carboxylase deficiency
0.60
Polyhydramnios
0.37
acute myeloid leukemia
0.17
neoplasm
0.11
non-small cell lung carcinoma
0.10
breast carcinoma
0.10
breast cancer
0.10
colorectal carcinoma
0.10
central nervous system cancer
0.08
glioma
0.08

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

Protein function (UniProt)

Bifunctional phosphoribosylaminoimidazole carboxylase/phosphoribosylaminoimidazole succinocarboxamide synthetase

Bifunctional phosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazole succinocarboxamide synthetase catalyzing two reactions of the de novo purine biosynthetic pathway