RPIA

Chr 2p11.2

ribose 5-phosphate isomerase A

MANE:: ENST00000283646.5

OMIM: 180430 ↗NCBI: 22934 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

RPIA · P49247

v62025-08-01

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

Mean pLDDT

83.7/ 100

Confident

311 residues

Confidence breakdown

Very high(≥ 90)75%
Confident(70–90)1%
Low(50–70)2%
Very low(< 50)23%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomal
Undiagnosed metabolic disorders
BIALLELIC, autosomal or pseudoautosomal
White matter disorders and cerebral calcification - narrow panel
BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomal
Childhood onset dystonia, chorea or related movement disorder

Disease associations (Open Targets)

ribose-5-P isomerase deficiency
0.75
Disorder of carbohydrate metabolism
0.46
hereditary disease
0.41
non-melanoma skin carcinoma
0.23
Hashimoto thyroiditis
0.21
autoimmune disease
0.20
skin neoplasm
0.20
neurodegenerative disease
0.19
hypothyroidism
0.19
immune system disorder
0.18

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

Protein function (UniProt)

Ribose-5-phosphate isomerase

Catalyzes the reversible conversion of ribose-5-phosphate to ribulose 5-phosphate and participates in the first step of the non-oxidative branch of the pentose phosphate pathway