The protein encoded by this gene catalyzes the fourth step of porphyrin biosynthesis in the heme biosynthetic pathway. Defects in this gene cause congenital erythropoietic porphyria (Gunther's disease). [provided by RefSeq, Jul 2008] See more...

Aliases for UROS Gene

Aliases for UROS Gene

  • Uroporphyrinogen III Synthase 2 3 5
  • Uroporphyrinogen-III Cosynthase 3 4
  • Uroporphyrinogen-III Synthase 3 4
  • UROIIIS 3 4
  • Hydroxymethylbilane Hydrolyase [Cyclizing] 4
  • Congenital Erythropoietic Porphyria 2
  • Hydroxymethylbilane Hydrolyase 3
  • EC 4.2.1.75 4

External Ids for UROS Gene

Previous GeneCards Identifiers for UROS Gene

  • GC10M126452
  • GC10M126680
  • GC10M127514
  • GC10M127051
  • GC10M127467
  • GC10M121166

Summaries for UROS Gene

Entrez Gene Summary for UROS Gene

  • The protein encoded by this gene catalyzes the fourth step of porphyrin biosynthesis in the heme biosynthetic pathway. Defects in this gene cause congenital erythropoietic porphyria (Gunther's disease). [provided by RefSeq, Jul 2008]

GeneCards Summary for UROS Gene

UROS (Uroporphyrinogen III Synthase) is a Protein Coding gene. Diseases associated with UROS include Porphyria, Congenital Erythropoietic and Porphyria. Among its related pathways are Metabolism and Porphyrin and chlorophyll metabolism. Gene Ontology (GO) annotations related to this gene include cofactor binding and uroporphyrinogen-III synthase activity.

UniProtKB/Swiss-Prot Summary for UROS Gene

  • Catalyzes cyclization of the linear tetrapyrrole, hydroxymethylbilane, to the macrocyclic uroporphyrinogen III, the branch point for the various sub-pathways leading to the wide diversity of porphyrins. Porphyrins act as cofactors for a multitude of enzymes that perform a variety of processes within the cell such as methionine synthesis (vitamin B12) or oxygen transport (heme).

Additional gene information for UROS Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for UROS Gene

Genomics for UROS Gene

GeneHancer (GH) Regulatory Elements for UROS Gene

Promoters and enhancers for UROS 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
GH10J125822 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 548.3 -0.3 -333 3.6 FOXK2 ZBTB40 ZNF217 EP300 TCF12 SIN3A NRF1 POLR2G SP1 BCLAF1 UROS BCCIP HSALNG0081428 EDRF1-AS1 CTBP2
GH10J125816 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE dbSUPER 547.2 +6.0 5968 3 PHB2 ZBTB11 AFF1 TARDBP HES1 MYC CTBP1 RBM25 HDAC3 NCOR1 UROS MMP21 EDRF1 FANK1 MIR4484 lnc-MMP21-2
GH10J125878 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE dbSUPER 36.3 -56.9 -56913 3.9 MYC USF1 JUND FOS ZNF10 FOXA1 TEAD1 RXRA WT1 FOXA2 DHX32 UROS MMP21 ENSG00000277371 RNU2-42P RF00004-020
GH10J125900 Promoter/Enhancer 1.4 EPDnew Ensembl ENCODE dbSUPER 37.3 -79.2 -79210 4.2 ZNF217 NONO CTBP1 TBX3 ZNF592 ZBTB17 E4F1 FOSL2 NEUROD1 KLF8 DHX32 UROS piR-34822-050 FANK1
GH10J125820 Enhancer 0.5 dbSUPER 48.4 +2.7 2705 1.1 MEF2B IRF1 EBF1 GLIS1 TBX21 HMBOX1 MIR4484 RF00005-036 UROS
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around UROS on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for UROS

Top Transcription factor binding sites by QIAGEN in the UROS gene promoter:
  • c-Myc
  • E47
  • FOXD3
  • HNF-3beta
  • Max1
  • Nkx6-1
  • PPAR-gamma1
  • PPAR-gamma2
  • SREBP-1a
  • SREBP-1b

Genomic Locations for UROS Gene

Genomic Locations for UROS Gene
chr10:125,784,980-125,823,268
(GRCh38/hg38)
Size:
38,289 bases
Orientation:
Minus strand
chr10:127,477,146-127,511,837
(GRCh37/hg19)
Size:
34,692 bases
Orientation:
Minus strand

Genomic View for UROS Gene

Genes around UROS on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for UROS Gene

Proteins for UROS Gene

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

    Protein Symbol:
    P10746-HEM4_HUMAN
    Recommended name:
    Uroporphyrinogen-III synthase
    Protein Accession:
    P10746
    Secondary Accessions:
    • B2RC13
    • D3DRF7
    • Q9H2T1

    Protein attributes for UROS Gene

    Size:
    265 amino acids
    Molecular mass:
    28628 Da
    Quaternary structure:
    • Monomer.

    Three dimensional structures from OCA and Proteopedia for UROS Gene

neXtProt entry for UROS Gene

Post-translational modifications for UROS Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for UROS Gene

Domains & Families for UROS Gene

Gene Families for UROS Gene

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

Protein Domains for UROS Gene

Blocks:
  • Uroporphyrinogen III synthase HEM4
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for UROS Gene

GenScript: Design optimal peptide antigens:
  • Uroporphyrinogen-III cosynthase (HEM4_HUMAN)
  • Uroporphyrinogen III synthase (Q5T3L7_HUMAN)
  • Uroporphyrinogen III synthase (Congenital erythropoietic porphyria), isoform CRA_c (Q5T3L8_HUMAN)
  • Uroporphyrinogen III synthase (Q5T3L9_HUMAN)
  • UROS protein (Q9BT54_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P10746

UniProtKB/Swiss-Prot:

HEM4_HUMAN :
  • Belongs to the uroporphyrinogen-III synthase family.
Family:
  • Belongs to the uroporphyrinogen-III synthase family.
genes like me logo Genes that share domains with UROS: view

Function for UROS Gene

Molecular function for UROS Gene

UniProtKB/Swiss-Prot Function:
Catalyzes cyclization of the linear tetrapyrrole, hydroxymethylbilane, to the macrocyclic uroporphyrinogen III, the branch point for the various sub-pathways leading to the wide diversity of porphyrins. Porphyrins act as cofactors for a multitude of enzymes that perform a variety of processes within the cell such as methionine synthesis (vitamin B12) or oxygen transport (heme).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=hydroxymethylbilane = H2O + uroporphyrinogen III; Xref=Rhea:RHEA:18965, ChEBI:CHEBI:15377, ChEBI:CHEBI:57308, ChEBI:CHEBI:57845; EC=4.2.1.75; Evidence=. ;.
GENATLAS Biochemistry:
uroporphyrinogen III synthase,cytosolic,catalyzing the fourth step of porphyrin biosynthesis

Enzyme Numbers (IUBMB) for UROS Gene

Phenotypes From GWAS Catalog for UROS Gene

Gene Ontology (GO) - Molecular Function for UROS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004852 uroporphyrinogen-III synthase activity TAS --
GO:0016829 lyase activity IEA --
GO:0048037 cofactor binding IEA --
genes like me logo Genes that share ontologies with UROS: view
genes like me logo Genes that share phenotypes with UROS: view

Human Phenotype Ontology for UROS Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for UROS Gene

MGI Knock Outs for UROS:
  • Uros Uros<tm2Cged>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

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

Clone Products

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

Localization for UROS Gene

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 UROS gene
Compartment Confidence
cytosol 5
mitochondrion 4
nucleus 3
plasma membrane 1
extracellular 1
cytoskeleton 1
peroxisome 1
endoplasmic reticulum 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for UROS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion ISS --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with UROS: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for UROS Gene

Pathways & Interactions for UROS Gene

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

Pathways by source for UROS Gene

UniProtKB/Swiss-Prot P10746-HEM4_HUMAN

  • Pathway: Porphyrin-containing compound metabolism; protoporphyrin-IX biosynthesis; coproporphyrinogen-III from 5-aminolevulinate: step 3/4.

Gene Ontology (GO) - Biological Process for UROS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006779 porphyrin-containing compound biosynthetic process IEA --
GO:0006780 uroporphyrinogen III biosynthetic process IEA,IDA 3174619
GO:0006782 protoporphyrinogen IX biosynthetic process IEA --
GO:0006783 heme biosynthetic process TAS --
GO:0033014 tetrapyrrole biosynthetic process IEA --
genes like me logo Genes that share ontologies with UROS: view

No data available for SIGNOR curated interactions for UROS Gene

Drugs & Compounds for UROS Gene

(9) Drugs for UROS Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Water Approved Pharma 0
Coproporphyrinogen III Experimental Pharma 0
heme Pharma Agonist 0

(8) Additional Compounds for UROS Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
hydroxymethylbilane
  • (Hydroxymethyl)bilane
  • 3,8,13,18-Tetrakis(carboxymethyl)-5,10,15,22,23,24-hexahydro-19-(hydroxymethyl)-21H-biline-2,7,12,17-tetrapropanoic acid
  • 3,8,13,18-Tetrakis(carboxymethyl)-5,10,15,22,23,24-hexahydro-19-(hydroxymethyl)-21H-biline-2,7,12,17-tetrapropanoate
  • 3,8,13,18-Tetrakis(carboxymethyl)-19-(hydroxymethyl)bilane-2,7,12,17-tetrapropanoate
  • 3,8,13,18-Tetrakis(carboxymethyl)-19-(hydroxymethyl)bilane-2,7,12,17-tetrapropanoic acid
73023-76-4
Formyl-CoA
  • Formyl coenzyme A
  • Formyl-coenzyme A
13131-49-2
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
Uroporphyrinogen III
  • 3,8,13,17-Tetrakis(carboxymethyl)-5,10,15,20,22,24-hexahydro-21H,23H-porphine-2,7,12,18-tetrapropanoic acid
  • 3,8,13,17-Tetrakis(carboxymethyl)-5,10,15,20,22,24-hexahydroporphyrin-2,7,12,18-tetrapropionic acid
  • Uro'gen III
  • 3,8,13,17-Tetrakis(carboxymethyl)-5,10,15,20,22,24-hexahydro-21H,23H-porphine-2,7,12,18-tetrapropanoate
  • 3,8,13,17-Tetrakis(carboxymethyl)-5,10,15,20,22,24-hexahydroporphyrin-2,7,12,18-tetrapropionate
1976-85-8
genes like me logo Genes that share compounds with UROS: view

Transcripts for UROS Gene

mRNA/cDNA for UROS Gene

5 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
21 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

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

Clone Products

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

ExUns: 1a · 1b · 1c ^ 2a · 2b · 2c · 2d ^ 3 ^ 4a · 4b · 4c · 4d ^ 5 ^ 6 ^ 7 ^ 8a · 8b · 8c ^ 9 ^ 10a · 10b ^ 11a · 11b ^ 12 ^ 13a · 13b ·
SP1: - - - - - - - - - -
SP2: - - - - - - - - -
SP3: - - - - - - - -
SP4: - - - - - - - - - -
SP5: - - - - - - - - - - - - - - - - -
SP6: - -
SP7: - - - - - -
SP8: - - - - - - - - - - -
SP9: - - -
SP10: - - - - - - -
SP11: - -
SP12: - -
SP13: - - - -
SP14:
SP15: - - - - -

ExUns: 13c ^ 14a · 14b · 14c · 14d · 14e · 14f · 14g · 14h
SP1: -
SP2: -
SP3:
SP4: -
SP5: -
SP6:
SP7:
SP8: -
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15: -

Relevant External Links for UROS Gene

GeneLoc Exon Structure for
UROS

Expression for UROS Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for UROS Gene

This gene is overexpressed in Heart (13.5) and Adrenal (12.0).

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



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for UROS

SOURCE GeneReport for Unigene cluster for UROS Gene:

Hs.501376

mRNA Expression by UniProt/SwissProt for UROS Gene:

P10746-HEM4_HUMAN
Tissue specificity: Ubiquitous.

Evidence on tissue expression from TISSUES for UROS Gene

  • Nervous system(4.7)
  • Liver(4.4)
  • Bone marrow(2.9)
  • Skin(2.4)
  • Urine(2.3)

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

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • lymphatic
  • nervous
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • eye
  • eyelid
  • face
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • neck
  • skull
  • tooth
Thorax:
  • chest wall
  • clavicle
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • abdominal wall
  • biliary tract
  • gallbladder
  • kidney
  • liver
  • pancreas
  • spleen
Pelvis:
  • pelvis
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • bone marrow
  • coagulation system
  • hair
  • red blood cell
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with UROS: view

No data available for mRNA differential expression in normal tissues and Protein tissue co-expression partners for UROS Gene

Orthologs for UROS Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for UROS Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia UROS 31 30
  • 99.12 (n)
OneToOne
dog
(Canis familiaris)
Mammalia UROS 31 30
  • 86.62 (n)
OneToOne
cow
(Bos Taurus)
Mammalia UROS 31 30
  • 86.11 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Uros 30
  • 80.88 (n)
mouse
(Mus musculus)
Mammalia Uros 17 31 30
  • 80.38 (n)
oppossum
(Monodelphis domestica)
Mammalia UROS 31
  • 70 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia UROS 31
  • 57 (a)
OneToOne
chicken
(Gallus gallus)
Aves UROS 31 30
  • 70.2 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia UROS 31
  • 68 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia uros 30
  • 63.7 (n)
zebrafish
(Danio rerio)
Actinopterygii uros 31 30
  • 58.3 (n)
OneToOne
Dr.24250 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008064 30
  • 46.98 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG1885 31 32 30
  • 45.2 (n)
OneToMany
CG9589 31
  • 26 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes HEM4 33 31
  • 24 (a)
Species where no ortholog for UROS was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for UROS Gene

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

Paralogs for UROS Gene

No data available for Paralogs for UROS Gene

Variants for UROS Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for UROS Gene

SNP ID Clinical significance and condition Chr 10 pos Variation AA Info Type
30626 Pathogenic: Congenital erythropoietic porphyria 125,789,036(-) A/C INTRON_VARIANT
694740 Pathogenic: Congenital erythropoietic porphyria 125,816,444(-) T/C MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
rs117926090 Likely Benign: Congenital erythropoietic porphyria 125,807,469(-) T/A MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
rs121908012 Pathogenic: Congenital erythropoietic porphyria; not provided. Congenital erythropoietic porphyria (CEP) [MIM:263700] 125,815,061(-) A/Gp.Cys73Arg MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
rs121908013 Pathogenic: Congenital erythropoietic porphyria. Congenital erythropoietic porphyria (CEP) [MIM:263700] 125,815,120(-) G/Ap.Pro53Leu MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT

Additional dbSNP identifiers (rs#s) for UROS Gene

Structural Variations from Database of Genomic Variants (DGV) for UROS Gene

Variant ID Type Subtype PubMed ID
esv2759788 CNV gain 17122850
esv33326 CNV gain 17666407
nsv428241 CNV loss 18775914
nsv832017 CNV loss 17160897
nsv8736 CNV loss 18304495

Variation tolerance for UROS Gene

Residual Variation Intolerance Score: 60.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.02; 37.20% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for UROS Gene

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

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for UROS Gene

Disorders for UROS Gene

MalaCards: The human disease database

(17) MalaCards diseases for UROS Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
porphyria, congenital erythropoietic
  • cep
porphyria
  • disorder of porphyrin and hem metabolism
cutaneous porphyria
  • erythropoietic porphyria
scleromalacia perforans
porphyria cutanea tarda
  • pct
- elite association - COSMIC cancer census association via MalaCards
Search UROS in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

HEM4_HUMAN
  • Congenital erythropoietic porphyria (CEP) [MIM:263700]: 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. The manifestations of CEP are heterogeneous, ranging from nonimmune hydrops fetalis due to severe hemolytic anemia in utero to milder, later onset forms, which have only skin lesions due to cutaneous photosensitivity in adult life. The deficiency in UROS activity results in the non-enzymatic conversion of hydroxymethylbilane (HMB) into the uroporphyrinogen-I isomer. {ECO:0000269 PubMed:11121156, ECO:0000269 PubMed:11689424, ECO:0000269 PubMed:12060141, ECO:0000269 PubMed:15304101, ECO:0000269 PubMed:1733834, ECO:0000269 PubMed:1737856, ECO:0000269 PubMed:21653323, ECO:0000269 PubMed:22350154, ECO:0000269 PubMed:2331520, ECO:0000269 PubMed:7860775, ECO:0000269 PubMed:8655129, ECO:0000269 PubMed:9188670, ECO:0000269 PubMed:9803266, ECO:0000269 PubMed:9834209}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Note=Severe congenital erythropoietic porphyria is associated with non-immune hydrops fetalis, a generalized edema of the fetus with fluid accumulation in the body cavities due to non-immune causes. Non-immune hydrops fetalis is not a diagnosis in itself but a symptom, a feature of many genetic disorders, and the end-stage of a wide variety of disorders.

Genatlas disease for UROS Gene

porphyria congenita erythropoietic,Gunther disease

Additional Disease Information for UROS

genes like me logo Genes that share disorders with UROS: view

Publications for UROS Gene

  1. Congenital erythropoietic porphyria: report of a novel mutation with absence of clinical manifestations in a homozygous mutant sibling. (PMID: 15304101) Ged C … de Verneuil H (The Journal of investigative dermatology 2004) 3 4 23 54
  2. Crystal structure of human uroporphyrinogen III synthase. (PMID: 11689424) Mathews MA … Hill CP (The EMBO journal 2001) 3 4 23 54
  3. Human uroporphyrinogen-III synthase: genomic organization, alternative promoters, and erythroid-specific expression. (PMID: 11112350) Aizencang G … Desnick RJ (Genomics 2000) 3 4 23 54
  4. Congenital erythropoietic porphyria successfully treated by allogeneic bone marrow transplantation. (PMID: 9834209) Tezcan I … Desnick RJ (Blood 1998) 3 4 23 54
  5. C73R is a hotspot mutation in the uroporphyrinogen III synthase gene in congenital erythropoietic porphyria. (PMID: 9803266) Frank J … Christiano AM (Annals of human genetics 1998) 3 4 23 54

Products for UROS Gene

Sources for UROS Gene