UROD

Chr 1p34.1

uroporphyrinogen decarboxylase

MANE:: ENST00000246337.9

OMIM: 613521 ↗NCBI: 7389 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

UROD · P06132

v62025-08-01

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

Mean pLDDT

96.8/ 100

Very high

367 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)

Cutaneous photosensitivity with a likely genetic cause
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Likely inborn error of metabolism
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Non-acute porphyrias
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Undiagnosed metabolic disorders
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Childhood onset dystonia, chorea or related movement disorder

Disease associations (Open Targets)

familial porphyria cutanea tarda
0.83
hepatoerythropoietic porphyria
0.78
porphyria cutanea tarda
0.62
UROD-related inherited porphyria
0.46
neurodegenerative disease
0.39
leukemia
0.37
sporadic porphyria cutanea tarda
0.27
hereditary disease
0.19
osteoarthritis
0.04
acute erythroid leukemia
0.04

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

Protein function (UniProt)

Uroporphyrinogen decarboxylase

Catalyzes the sequential decarboxylation of the four acetate side chains of uroporphyrinogen to form coproporphyrinogen and participates in the fifth step in the heme biosynthetic pathway (PubMed:11069625, PubMed:11719352, PubMed:14633982, PubMed:18004775, PubMed:21668429). Isomer I or isomer III of uroporphyrinogen may serve as substrate, but only coproporphyrinogen III can ultimately be converted to heme (PubMed:11069625, PubMed:11719352, PubMed:14633982, PubMed:21668429). In vitro also decarboxylates pentacarboxylate porphyrinogen I (PubMed:12071824)