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Aliases for UROD Gene

Aliases for UROD Gene

  • Uroporphyrinogen Decarboxylase 2 3 3 5
  • UPD 3 4
  • Uroporphyrinogen III Decarboxylase 3
  • EC 4.1.1.37 4
  • URO-D 4
  • PCT 3

External Ids for UROD Gene

Previous GeneCards Identifiers for UROD Gene

  • GC01P045205
  • GC01P044478
  • GC01P044907
  • GC01P044891
  • GC01P045147
  • GC01P045250
  • GC01P045477
  • GC01P043589

Summaries for UROD Gene

Entrez Gene Summary for UROD Gene

  • This gene encodes an enzyme in the heme biosynthetic pathway. This enzyme is responsible for catalyzing the conversion of uroporphyrinogen to coproporphyrinogen through the removal of four carboxymethyl side chains. Mutations and deficiency in this enzyme are known to cause familial porphyria cutanea tarda and hepatoerythropoetic porphyria.[provided by RefSeq, Aug 2010]

GeneCards Summary for UROD Gene

UROD (Uroporphyrinogen Decarboxylase) is a Protein Coding gene. Diseases associated with UROD include Porphyria Cutanea Tarda and Familial Porphyria Cutanea Tarda. Among its related pathways are Metabolism and Porphyrin and chlorophyll metabolism. Gene Ontology (GO) annotations related to this gene include uroporphyrinogen decarboxylase activity.

UniProtKB/Swiss-Prot for UROD Gene

  • Catalyzes the decarboxylation of four acetate groups of uroporphyrinogen-III to yield coproporphyrinogen-III.

Gene Wiki entry for UROD Gene

Additional gene information for UROD Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for UROD Gene

Genomics for UROD Gene

GeneHancer (GH) Regulatory Elements for UROD Gene

Promoters and enhancers for UROD Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J045009 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE dbSUPER 684.7 +0.3 254 5.4 MLX ZFP64 DMAP1 YY1 ZNF213 E2F8 ZNF143 SP3 MEF2D GLIS1 UROD HECTD3 TOE1 MUTYH RPS15AP10 NASP GPBP1L1 BEST4 BTBD19 TMEM69
GH01J044985 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 13 -25.7 -25748 2 CLOCK MLX DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 EIF2B3 TOE1 GPBP1L1 RPS8 HECTD3 MUTYH RPL7AP16 RPS15AP10 TMA16P2 DMAP1
GH01J044739 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 10.6 -272.1 -272077 2.1 HDGF PKNOX1 FOXA2 SMAD1 ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 PIR60865 KIF2C GPBP1L1 TOE1 RPL7AP16 HECTD3 RPS15AP10 TMEM69 UROD DMAP1
GH01J044805 Promoter/Enhancer 1.8 Ensembl ENCODE dbSUPER 12.6 -201.7 -201682 10.7 MLX ZFP64 DMAP1 IRF4 YY1 SLC30A9 E2F8 ZNF143 MEF2D SSRP1 TOE1 GPBP1L1 RPS8 HECTD3 MUTYH RPL7AP16 RPS15AP10 ENSG00000225721 UROD BEST4
GH01J044946 Enhancer 1 Ensembl ENCODE 20.5 -64.8 -64836 2.3 FOXA2 ARNT MZF1 ZNF2 RARA ZNF335 RUNX3 CEBPB ZNF398 ZNF843 UROD EIF2B3 PPIAP35 BEST4 RNA5SP47 CCNB1IP1P1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around UROD on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the UROD gene promoter:
  • Arnt
  • AhR
  • FOXD3
  • Pbx1a
  • CUTL1
  • Nkx2-5
  • AP-4
  • E47
  • Tal-1beta
  • USF-1

Genomic Locations for UROD Gene

Genomic Locations for UROD Gene
chr1:45,012,133-45,015,669
(GRCh38/hg38)
Size:
3,537 bases
Orientation:
Plus strand
chr1:45,477,805-45,481,341
(GRCh37/hg19)
Size:
3,537 bases
Orientation:
Plus strand

Genomic View for UROD Gene

Genes around UROD on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
UROD Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for UROD Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for UROD Gene

Proteins for UROD Gene

  • Protein details for UROD Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P06132-DCUP_HUMAN
    Recommended name:
    Uroporphyrinogen decarboxylase
    Protein Accession:
    P06132
    Secondary Accessions:
    • A8K762
    • Q16863
    • Q16883
    • Q53YB8
    • Q53ZP6
    • Q6IB28
    • Q9BUZ0

    Protein attributes for UROD Gene

    Size:
    367 amino acids
    Molecular mass:
    40787 Da
    Quaternary structure:
    • Homodimer.

    Three dimensional structures from OCA and Proteopedia for UROD Gene

neXtProt entry for UROD Gene

Post-translational modifications for UROD Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for UROD Gene

No data available for DME Specific Peptides for UROD Gene

Domains & Families for UROD Gene

Gene Families for UROD Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins

Graphical View of Domain Structure for InterPro Entry

P06132

UniProtKB/Swiss-Prot:

DCUP_HUMAN :
  • Belongs to the uroporphyrinogen decarboxylase family.
Family:
  • Belongs to the uroporphyrinogen decarboxylase family.
genes like me logo Genes that share domains with UROD: view

Function for UROD Gene

Molecular function for UROD Gene

UniProtKB/Swiss-Prot Function:
Catalyzes the decarboxylation of four acetate groups of uroporphyrinogen-III to yield coproporphyrinogen-III.
UniProtKB/Swiss-Prot CatalyticActivity:
Uroporphyrinogen III = coproporphyrinogen + 4 CO(2).
GENATLAS Biochemistry:
uroporphyrinogen decarboxylase,cytosolic,catalyzing coproporphyrinogen IX formation,fifth step of porphyrin synthesis

Enzyme Numbers (IUBMB) for UROD Gene

Phenotypes From GWAS Catalog for UROD Gene

Gene Ontology (GO) - Molecular Function for UROD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004853 uroporphyrinogen decarboxylase activity TAS --
GO:0005515 protein binding IPI 25416956
GO:0016829 lyase activity IEA --
GO:0016831 carboxy-lyase activity IEA --
genes like me logo Genes that share ontologies with UROD: view
genes like me logo Genes that share phenotypes with UROD: view

Human Phenotype Ontology for UROD Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for UROD Gene

MGI Knock Outs for UROD:
  • Urod Urod<tm1Kush>

Animal Model Products

CRISPR Products

miRNA for UROD Gene

miRTarBase miRNAs that target UROD

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for UROD

Clone Products

No data available for Transcription Factor Targets and HOMER Transcription for UROD Gene

Localization for UROD Gene

Subcellular locations from UniProtKB/Swiss-Prot for UROD Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for UROD gene
Compartment Confidence
nucleus 5
cytosol 5
extracellular 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nucleoplasm (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for UROD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS,IDA --
genes like me logo Genes that share ontologies with UROD: view

Pathways & Interactions for UROD Gene

genes like me logo Genes that share pathways with UROD: view

Pathways by source for UROD Gene

1 BioSystems pathway for UROD Gene
3 Reactome pathways for UROD Gene

UniProtKB/Swiss-Prot P06132-DCUP_HUMAN

  • Pathway: Porphyrin-containing compound metabolism; protoporphyrin-IX biosynthesis; coproporphyrinogen-III from 5-aminolevulinate: step 4/4.

Gene Ontology (GO) - Biological Process for UROD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006779 porphyrin-containing compound biosynthetic process IEA --
GO:0006782 protoporphyrinogen IX biosynthetic process IEA --
GO:0006783 heme biosynthetic process TAS --
GO:0042168 heme metabolic process IEA --
genes like me logo Genes that share ontologies with UROD: view

No data available for SIGNOR curated interactions for UROD Gene

Drugs & Compounds for UROD Gene

(17) Drugs for UROD Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Carbon dioxide Approved, Investigational, Vet_approved Pharma 0
Coproporphyrinogen III Experimental Pharma Target 0
Coproporphyrin I Experimental Pharma Target 0
heme Pharma Agonist 0

(27) Additional Compounds for UROD Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Uroporphyrinogen I
  • 3,8,13,18-Tetrakis(carboxymethyl)-5,10,15,20,22,24-hexahydroporphyrin-2,7,12,17-tetrapropionic acid
  • Uro'gen I
  • Uroporphyrinogen-I
  • 3,8,13,18-Tetrakis(carboxymethyl)-5,10,15,20,22,24-hexahydroporphyrin-2,7,12,17-tetrapropionate
  • 3,8,13,18-Tetrakis(carboxymethyl)-5,10,15,20,22,24-hexahydro-(8ci)-2,7,12,17-porphinetetrapropionate
1867-62-5
Coproporphyrin III
  • 3,8,13,17-Tetramethylporphyrin-2,7,12,18-tetrapropanoic acid
  • 3,8,13,17-Tetramethylporphyrin-2,7,12,18-tetrapropanoate
14643-66-4
Coproporphyrinogen I
  • 3,8,13,18-Tetramethyl-5,10,15,20,22,24-hexahydroporphyrin-2,7,12,17-tetrapropionic acid
  • COPROPORPHYRIN I
  • 3,8,13,18-Tetramethyl-5,10,15,20,22,24-hexahydroporphyrin-2,7,12,17-tetrapropionate
  • 3,8,13,18-Tetramethyl-5,10,15,20,22,24-hexahydroporphyrin-2,7,12,17-tetrapropanoate
  • 3,8,13,18-Tetramethyl-5,10,15,20,22,24-hexahydroporphyrin-2,7,12,17-tetrapropanoic acid
31110-56-2
Fe2+
  • FE (II) ion
  • Fe(II)
  • Fe(2+)
  • Ferrous ion
  • Iron ion(2+)
15438-31-0
Formyl-CoA
  • Formyl coenzyme A
  • Formyl-coenzyme A
13131-49-2
genes like me logo Genes that share compounds with UROD: view

Transcripts for UROD Gene

mRNA/cDNA for UROD Gene

Unigene Clusters for UROD Gene

Uroporphyrinogen decarboxylase:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for UROD

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for UROD Gene

ExUns: 1a · 1b · 1c · 1d · 1e · 1f · 1g ^ 2a · 2b · 2c · 2d · 2e · 2f · 2g ^ 3 ^ 4a · 4b · 4c · 4d · 4e ^ 5a · 5b · 5c ^ 6a · 6b · 6c ·
SP1: - - - - - - - - -
SP2: - - - - - - - - - - -
SP3: - - - - - -
SP4: - - - -
SP5: - - -
SP6: - - - - - - -
SP7: - - - - -
SP8: - - - - - - - - -
SP9: - - - - -
SP10: - - -
SP11: - - -
SP12: - - - -
SP13: - - -
SP14:
SP15:
SP16: - - - - - - - -
SP17: - - - - -
SP18: - - -
SP19: - - -
SP20: - -
SP21: - - - - -
SP22: - - - -
SP23: - -
SP24: - - - -
SP25:
SP26: - - - - -
SP27:
SP28:
SP29:

ExUns: 6d · 6e ^ 7a · 7b · 7c · 7d ^ 8a · 8b ^ 9a · 9b · 9c ^ 10a · 10b ^ 11a · 11b ^ 12a · 12b · 12c · 12d
SP1: - - -
SP2: - -
SP3: - -
SP4: - -
SP5: - -
SP6: - - -
SP7:
SP8:
SP9: - -
SP10: -
SP11: -
SP12: - - - - -
SP13: - -
SP14: - - -
SP15: - - - - - - - -
SP16:
SP17:
SP18:
SP19: -
SP20: -
SP21:
SP22:
SP23:
SP24:
SP25: -
SP26:
SP27:
SP28: -
SP29: - -

Relevant External Links for UROD Gene

GeneLoc Exon Structure for
UROD
ECgene alternative splicing isoforms for
UROD

Expression for UROD Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for UROD Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for UROD Gene

This gene is overexpressed in Peripheral blood mononuclear cells (11.1) and Fetal Liver (9.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for UROD Gene



Protein tissue co-expression partners for UROD Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of UROD Gene:

UROD

SOURCE GeneReport for Unigene cluster for UROD Gene:

Hs.78601

Evidence on tissue expression from TISSUES for UROD Gene

  • Nervous system(4.5)
  • Muscle(4.3)
  • Kidney(3.4)
  • Liver(3.4)
  • Lung(3.4)
  • Skin(3.4)
  • Blood(3)
  • Bone marrow(2.6)
  • Intestine(2.6)
  • Adrenal gland(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for UROD Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • nervous
  • reproductive
  • skeletal muscle
  • urinary
Regions:
Head and neck:
  • brain
  • face
  • head
  • mouth
  • salivary gland
Thorax:
  • breast
  • esophagus
Abdomen:
  • gallbladder
  • kidney
  • liver
  • spleen
Pelvis:
  • testicle
Limb:
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • nail
  • toe
  • upper limb
General:
  • blood
  • blood vessel
  • coagulation system
  • hair
  • red blood cell
  • skin
  • white blood cell
genes like me logo Genes that share expression patterns with UROD: view

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for UROD Gene

Orthologs for UROD Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for UROD Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia UROD 34 33
  • 99.64 (n)
OneToOne
dog
(Canis familiaris)
Mammalia UROD 34 33
  • 91.55 (n)
OneToOne
cow
(Bos Taurus)
Mammalia UROD 34 33
  • 91.28 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Urod 33
  • 89.1 (n)
mouse
(Mus musculus)
Mammalia Urod 16 34 33
  • 88.92 (n)
oppossum
(Monodelphis domestica)
Mammalia UROD 34
  • 76 (a)
OneToOne
chicken
(Gallus gallus)
Aves UROD 34 33
  • 71.17 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia UROD 34
  • 74 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia urod 33
  • 67.6 (n)
Str.10689 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.15429 33
zebrafish
(Danio rerio)
Actinopterygii urod 34 33 33
  • 66.95 (n)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.3585 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011895 33
  • 58.62 (n)
fruit fly
(Drosophila melanogaster)
Insecta Updo 34 35 33
  • 56.95 (n)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AGL210C 33
  • 54.01 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes HEM12 36 34 33
  • 53.52 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F11770g 33
  • 53.11 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons HEME2 33
  • 45.15 (n)
rice
(Oryza sativa)
Liliopsida Os03g0337600 33
  • 46.52 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8855 34
  • 58 (a)
OneToOne
Cin.14012 33
bread mold
(Neurospora crassa)
Ascomycetes NCU02771 33
  • 55.78 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes hem12 33
  • 53.99 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.14012 33
Species where no ortholog for UROD was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for UROD Gene

ENSEMBL:
Gene Tree for UROD (if available)
TreeFam:
Gene Tree for UROD (if available)
Aminode:
Evolutionary constrained regions (ECRs) for UROD: view image

Paralogs for UROD Gene

No data available for Paralogs for UROD Gene

Variants for UROD Gene

Sequence variations from dbSNP and Humsavar for UROD Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs116233118 Familial porphyria cutanea tarda (FPCT) [MIM:176100] 45,015,346(+) G/A coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs121918057 pathogenic, Hepatoerythropoietic porphyria, Porphyria cutanea tarda, Familial porphyria cutanea tarda, Familial porphyria cutanea tarda (FPCT) [MIM:176100], Hepatoerythropoietic porphyria (HEP) [MIM:176100], Familial porphyria cutanea tarda (FPCT) [MIM:176100] 45,014,803(+) G/A/T coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs121918058 pathogenic, Hepatoerythropoietic porphyria, Familial porphyria cutanea tarda (FPCT) [MIM:176100], Hepatoerythropoietic porphyria (HEP) [MIM:176100] 45,013,933(+) G/A coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs121918059 pathogenic, uncertain-significance, Hepatoerythropoietic porphyria, not specified, Hepatoerythropoietic porphyria (HEP) [MIM:176100] 45,014,835(+) C/G/T coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs121918060 pathogenic, Hepatoerythropoietic porphyria, Hepatoerythropoietic porphyria (HEP) [MIM:176100] 45,013,187(+) C/T 5_prime_UTR_variant, coding_sequence_variant, missense_variant, non_coding_transcript_variant

Variation tolerance for UROD Gene

Residual Variation Intolerance Score: 48.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.65; 31.62% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for UROD Gene

Human Gene Mutation Database (HGMD)
UROD
SNPedia medical, phenotypic, and genealogical associations of SNPs for
UROD

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for UROD Gene

Disorders for UROD Gene

MalaCards: The human disease database

(23) MalaCards diseases for UROD Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
porphyria cutanea tarda
  • pct
familial porphyria cutanea tarda
  • porphyria cutanea tarda
porphyria cutanea tarda, type i
  • pct, type i
porphyria
  • disorder of porphyrin and hem metabolism
cutaneous porphyria
  • erythropoietic porphyria
- elite association - COSMIC cancer census association via MalaCards
Search UROD in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

DCUP_HUMAN
  • Familial porphyria cutanea tarda (FPCT) [MIM:176100]: A form of porphyria. Porphyrias are inherited defects in the biosynthesis of heme, resulting in the accumulation and increased excretion of porphyrins or porphyrin precursors. They are classified as erythropoietic or hepatic, depending on whether the enzyme deficiency occurs in red blood cells or in the liver. Familial porphyria cutanea tarda is an autosomal dominant disorder characterized by light-sensitive dermatitis, with onset in later life. It is associated with the excretion of large amounts of uroporphyrin in the urine. Iron overload is often present in association with varying degrees of liver damage. {ECO:0000269 PubMed:10338097, ECO:0000269 PubMed:10477430, ECO:0000269 PubMed:11069625, ECO:0000269 PubMed:11295834, ECO:0000269 PubMed:11719352, ECO:0000269 PubMed:2243121, ECO:0000269 PubMed:2920211, ECO:0000269 PubMed:7706766, ECO:0000269 PubMed:8896428, ECO:0000269 PubMed:9792863}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Hepatoerythropoietic porphyria (HEP) [MIM:176100]: A form of porphyria. Porphyrias are inherited defects in the biosynthesis of heme, resulting in the accumulation and increased excretion of porphyrins or porphyrin precursors. They are classified as erythropoietic or hepatic, depending on whether the enzyme deficiency occurs in red blood cells or in the liver. HEP is a cutaneous porphyria that presents in infancy. It is characterized biochemically by excessive excretion of acetate-substituted porphyrins and accumulation of protoporphyrin in erythrocytes. Uroporphyrinogen decarboxylase levels are very low in erythrocytes and cultured skin fibroblasts. {ECO:0000269 PubMed:12071824, ECO:0000269 PubMed:15491440, ECO:0000269 PubMed:1634232, ECO:0000269 PubMed:17240319, ECO:0000269 PubMed:1905636, ECO:0000269 PubMed:21668429, ECO:0000269 PubMed:3775362, ECO:0000269 PubMed:8176248, ECO:0000269 PubMed:8644733, ECO:0000269 PubMed:8896428}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for UROD Gene

porphyria cutanea tarda,hepatoerythropoietic,autosomal dominant photosensitive dermatitis,mechanical fragility of the light-exposed skin,hyperpigmentation,hypertrichosis,provoked by various ecogenic factors and,likely by heterozygosity to some HFE mutations

Additional Disease Information for UROD

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with UROD: view

Publications for UROD Gene

  1. Identification and characterization of novel uroporphyrinogen decarboxylase gene mutations in a large series of porphyria cutanea tarda patients and relatives. (PMID: 19419417) Badenas C … Herrero C (Clinical genetics 2009) 3 22 44 58
  2. Molecular heterogeneity of familial porphyria cutanea tarda in Spain: characterization of 10 novel mutations in the UROD gene. (PMID: 17627795) Méndez M … Enríquez de Salamanca R (The British journal of dermatology 2007) 3 22 44 58
  3. Hepatoerythropoietic porphyria: a missense mutation in the UROD gene is associated with mild disease and an unusual porphyrin excretion pattern. (PMID: 15491440) Armstrong DK … Elder GH (The British journal of dermatology 2004) 3 4 22 58
  4. Seven novel point mutations in the uroporphyrinogen decarboxylase (UROD) gene in patients with familial porphyria cutanea tarda (f-PCT). (PMID: 11295834) Cappellini MD … Fiorelli G (Human mutation 2001) 3 4 22 58
  5. Functional consequences of naturally occurring mutations in human uroporphyrinogen decarboxylase. (PMID: 11719352) Phillips JD … Kushner JP (Blood 2001) 3 4 22 58

Products for UROD Gene

Sources for UROD Gene