Details for: UROD

Gene ID: 7389

Symbol: UROD

Ensembl ID: ENSG00000126088

Description: uroporphyrinogen decarboxylase

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: embryonic stem cell (CL0002322)
    Fold Change: 71.8781
    Cell Significance Index: -29.6100
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 61.7343
    Cell Significance Index: -25.0800
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 60.8317
    Cell Significance Index: -28.7200
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 59.4536
    Cell Significance Index: -15.0800
  • Cell Name: basophilic erythroblast (CL0000549)
    Fold Change: 50.1091
    Cell Significance Index: 22.8200
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 26.4783
    Cell Significance Index: -25.2800
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 7.4631
    Cell Significance Index: -19.9900
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 7.1185
    Cell Significance Index: -28.0900
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 6.4627
    Cell Significance Index: -19.8500
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 6.1235
    Cell Significance Index: -7.5500
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 3.5639
    Cell Significance Index: -7.8000
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: 2.3252
    Cell Significance Index: 59.4000
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: 2.2875
    Cell Significance Index: 29.3000
  • Cell Name: thyroid follicular cell (CL0002258)
    Fold Change: 1.7374
    Cell Significance Index: 18.4600
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 1.5718
    Cell Significance Index: 255.6300
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 1.3359
    Cell Significance Index: 1206.1800
  • Cell Name: kidney cell (CL1000497)
    Fold Change: 1.2556
    Cell Significance Index: 10.0300
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: 1.0960
    Cell Significance Index: 22.9400
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 1.0879
    Cell Significance Index: 65.3100
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 1.0369
    Cell Significance Index: 112.7800
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 0.8583
    Cell Significance Index: 11.7100
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.7880
    Cell Significance Index: 108.2100
  • Cell Name: skeletal muscle myoblast (CL0000515)
    Fold Change: 0.7414
    Cell Significance Index: 8.0600
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.6915
    Cell Significance Index: 32.2400
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.6835
    Cell Significance Index: 87.6200
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 0.6496
    Cell Significance Index: 17.0800
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: 0.6364
    Cell Significance Index: 18.6900
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: 0.6216
    Cell Significance Index: 21.6000
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 0.5944
    Cell Significance Index: 16.1800
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.5585
    Cell Significance Index: 14.9700
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.5559
    Cell Significance Index: 38.4500
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.5371
    Cell Significance Index: 237.4600
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.4775
    Cell Significance Index: 56.3100
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 0.4108
    Cell Significance Index: 30.6200
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.4060
    Cell Significance Index: 21.0900
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 0.3868
    Cell Significance Index: 49.9800
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.3625
    Cell Significance Index: 65.3600
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.3619
    Cell Significance Index: 7.8400
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.3523
    Cell Significance Index: 192.4200
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 0.3198
    Cell Significance Index: 22.6200
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.3093
    Cell Significance Index: 38.0300
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.2934
    Cell Significance Index: 13.3000
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 0.2932
    Cell Significance Index: 18.9200
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.2687
    Cell Significance Index: 7.5100
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.2400
    Cell Significance Index: 6.4200
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.2360
    Cell Significance Index: 47.3500
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.2312
    Cell Significance Index: 44.0000
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: 0.2148
    Cell Significance Index: 2.4400
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.1924
    Cell Significance Index: 133.0500
  • Cell Name: theca cell (CL0000503)
    Fold Change: 0.1855
    Cell Significance Index: 1.0900
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 0.1495
    Cell Significance Index: 7.8500
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.1483
    Cell Significance Index: 29.4400
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.1362
    Cell Significance Index: 8.5900
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.1201
    Cell Significance Index: 3.4600
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 0.0597
    Cell Significance Index: 2.8100
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: 0.0439
    Cell Significance Index: 0.7300
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.0403
    Cell Significance Index: 3.9900
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.0384
    Cell Significance Index: 13.7600
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: 0.0323
    Cell Significance Index: 1.6800
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: 0.0068
    Cell Significance Index: 4.9500
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.0004
    Cell Significance Index: -0.0100
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0027
    Cell Significance Index: -5.0300
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.0031
    Cell Significance Index: -0.1100
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0036
    Cell Significance Index: -2.7300
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0109
    Cell Significance Index: -1.1100
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0127
    Cell Significance Index: -23.4400
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0162
    Cell Significance Index: -24.9500
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0199
    Cell Significance Index: -27.1100
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0203
    Cell Significance Index: -12.8900
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0214
    Cell Significance Index: -3.6600
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0328
    Cell Significance Index: -24.3100
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0434
    Cell Significance Index: -24.4600
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0512
    Cell Significance Index: -31.9700
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0536
    Cell Significance Index: -24.3100
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.0571
    Cell Significance Index: -1.8300
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0776
    Cell Significance Index: -22.3400
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.0966
    Cell Significance Index: -11.2600
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.1361
    Cell Significance Index: -15.6000
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: -0.1429
    Cell Significance Index: -1.1700
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.1444
    Cell Significance Index: -21.0000
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.1509
    Cell Significance Index: -31.7900
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: -0.1985
    Cell Significance Index: -2.0600
  • Cell Name: peg cell (CL4033014)
    Fold Change: -0.2013
    Cell Significance Index: -4.6500
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.2346
    Cell Significance Index: -18.5800
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.2588
    Cell Significance Index: -6.4700
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.2653
    Cell Significance Index: -27.6300
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.2743
    Cell Significance Index: -21.0500
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: -0.3171
    Cell Significance Index: -5.8600
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.3181
    Cell Significance Index: -21.3900
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.3257
    Cell Significance Index: -19.9700
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.3446
    Cell Significance Index: -21.1800
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.3507
    Cell Significance Index: -10.3300
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.3724
    Cell Significance Index: -7.9300
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.3942
    Cell Significance Index: -22.1200
  • Cell Name: primitive red blood cell (CL0002355)
    Fold Change: -0.4041
    Cell Significance Index: -4.5800
  • Cell Name: microcirculation associated smooth muscle cell (CL0008035)
    Fold Change: -0.4655
    Cell Significance Index: -3.9100
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.4811
    Cell Significance Index: -13.7900
  • Cell Name: vascular lymphangioblast (CL0005022)
    Fold Change: -0.5150
    Cell Significance Index: -9.1000
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.5383
    Cell Significance Index: -23.8100
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.5485
    Cell Significance Index: -9.4000

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** 1. **Enzyme Function:** UROD is a decarboxylase enzyme responsible for converting uroporphyrinogen III to coproporphyrinogen III in the heme biosynthetic pathway. 2. **Subcellular Localization:** UROD is primarily localized in the cytosol, where it plays a critical role in regulating heme biosynthesis. 3. **Significantly Expressed Cells:** UROD is expressed in various cell types, including erythroid progenitor cells, interstitial cells of the ovary, Leydig cells, and hematopoietic stem cells. 4. **Protein Binding:** UROD exhibits a high degree of protein binding, which may influence its activity and regulation. **Pathways and Functions:** 1. **Heme Biosynthesis:** UROD is a key enzyme in the heme biosynthetic pathway, which involves the conversion of succinyl-CoA and glycine to heme. 2. **Heme a Biosynthesis:** UROD is involved in the biosynthesis of heme a, a precursor to heme a2, which is a critical component of hemoglobin. 3. **Heme b Biosynthesis:** UROD is also involved in the biosynthesis of heme b, a precursor to heme b2, which is a critical component of myoglobin. 4. **Protoporphyrinogen IX Biosynthetic Process:** UROD is required for the conversion of protoporphyrinogen IX to coproporphyrinogen IX, a critical step in the heme biosynthetic pathway. **Clinical Significance:** 1. **Porphyria Cutanea Tarda (PCT):** UROD mutations are a common cause of PCT, a chronic skin disorder characterized by blistering, scarring, and photosensitivity. 2. **Acute Intermittent Porphyria (AIP):** UROD mutations are also associated with AIP, a rare and life-threatening disorder characterized by severe abdominal pain, neurological symptoms, and acute kidney injury. 3. **Heme Biosynthesis Defects:** UROD mutations can also lead to defects in heme biosynthesis, resulting in anemia, neurological symptoms, and other systemic complications. In conclusion, the UROD gene plays a critical role in heme biosynthesis, and its dysregulation can lead to a range of clinical disorders, including Porphyria Cutanea Tarda and Acute Intermittent Porphyria. A comprehensive understanding of the UROD gene's role in heme biosynthesis and its clinical significance is essential for the development of effective diagnostic and therapeutic strategies for these disorders.

Genular Protein ID: 2236946864

Symbol: DCUP_HUMAN

Name: N/A

UniProtKB Accession Codes:

P06132 A8K762 Q16863 Q16883 Q53YB8 Q53ZP6 Q6IB28 Q9BUZ0

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 1 Bgee 1 BioCyc 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CTD 1 ChEBI 8 ChEMBL 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 DisProt 1 DrugBank 2 EC 1 EMBL 33 Ensembl 1 EvolutionaryTrace 1 ExpressionAtlas 1 GO 10 Gene3D 1 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyGen 1 HAMAP 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 3 KEGG 1 MANE-Select 1 MIM 4 MINT 1 MalaCards 1 MassIVE 1 MetOSite 1 NCBI Taxonomy 1 NCBIfam 1 OGP 1 OMA 1 OpenTargets 1 Orphanet 2 OrthoDB 1 PANTHER 2 PDB 19 PDBsum 19 PIR 2 PRO 1 PROSITE 2 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 Pumba 1 RNAct 1 Reactome 1 RefSeq 1 Rhea 4 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TopDownProteomics 1 TreeFam 1 UCSC 1 UniPathway 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 3015909

Title: Molecular cloning and nucleotide sequence of a complete human uroporphyrinogen decarboxylase cDNA.

PubMed ID: 3015909

DOI: 10.1016/s0021-9258(18)67589-1

PubMed ID: 8644733

Title: Uroporphyrinogen decarboxylase: complete human gene sequence and molecular study of three families with hepatoerythropoietic porphyria.

PubMed ID: 8644733

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 16710414

Title: The DNA sequence and biological annotation of human chromosome 1.

PubMed ID: 16710414

DOI: 10.1038/nature04727

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 3658695

Title: Structure of the gene for human uroporphyrinogen decarboxylase.

PubMed ID: 3658695

DOI: 10.1093/nar/15.18.7343

PubMed ID: 2243121

Title: Uroporphyrinogen decarboxylase: a splice site mutation causes the deletion of exon 6 in multiple families with porphyria cutanea tarda.

PubMed ID: 2243121

DOI: 10.1172/jci114856

PubMed ID: 9194196

Title: Characterization and crystallization of human uroporphyrinogen decarboxylase.

PubMed ID: 9194196

DOI: 10.1002/pro.5560060624

PubMed ID: 18004775

Title: Human uroporphyrinogen III synthase: NMR-based mapping of the active site.

PubMed ID: 18004775

DOI: 10.1002/prot.21755

PubMed ID: 19413330

Title: Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.

PubMed ID: 19413330

DOI: 10.1021/ac9004309

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 22223895

Title: Comparative large-scale characterisation of plant vs. mammal proteins reveals similar and idiosyncratic N-alpha acetylation features.

PubMed ID: 22223895

DOI: 10.1074/mcp.m111.015131

PubMed ID: 22814378

Title: N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB.

PubMed ID: 22814378

DOI: 10.1073/pnas.1210303109

PubMed ID: 9564029

Title: Crystal structure of human uroporphyrinogen decarboxylase.

PubMed ID: 9564029

DOI: 10.1093/emboj/17.9.2463

PubMed ID: 11719352

Title: Functional consequences of naturally occurring mutations in human uroporphyrinogen decarboxylase.

PubMed ID: 11719352

DOI: 10.1182/blood.v98.12.3179

PubMed ID: 14633982

Title: Structural basis for tetrapyrrole coordination by uroporphyrinogen decarboxylase.

PubMed ID: 14633982

DOI: 10.1093/emboj/cdg606

PubMed ID: 3775362

Title: Uroporphyrinogen decarboxylase structural mutant (Gly-281-->Glu) in a case of porphyria.

PubMed ID: 3775362

DOI: 10.1126/science.3775362

PubMed ID: 2920211

Title: A point mutation in the coding region of uroporphyrinogen decarboxylase associated with familial porphyria cutanea tarda.

PubMed ID: 2920211

PubMed ID: 1905636

Title: Identification of a new mutation responsible for hepatoerythropoietic porphyria.

PubMed ID: 1905636

DOI: 10.1111/j.1365-2362.1991.tb01814.x

PubMed ID: 1634232

Title: Characterization of a new mutation (R292G) and a deletion at the human uroporphyrinogen decarboxylase locus in two patients with hepatoerythropoietic porphyria.

PubMed ID: 1634232

DOI: 10.1007/bf00219182

PubMed ID: 8176248

Title: Molecular defects of uroporphyrinogen decarboxylase in a patient with mild hepatoerythropoietic porphyria.

PubMed ID: 8176248

DOI: 10.1111/1523-1747.ep12374134

PubMed ID: 7706766

Title: A mutation 'G281E' of the human uroporphyrinogen decarboxylase gene causes both hepatoerythropoietic porphyria and overt familial porphyria cutanea tarda: biochemical and genetic studies on Spanish patients.

PubMed ID: 7706766

DOI: 10.1111/1523-1747.ep12605953

PubMed ID: 8896428

Title: Five new mutations in the uroporphyrinogen decarboxylase gene identified in families with cutaneous porphyria.

PubMed ID: 8896428

PubMed ID: 9792863

Title: Familial porphyria cutanea tarda: characterization of seven novel uroporphyrinogen decarboxylase mutations and frequency of common hemochromatosis alleles.

PubMed ID: 9792863

DOI: 10.1086/302119

PubMed ID: 10338097

Title: Three new mutations in the uroporphyrinogen decarboxylase gene in familial porphyria cutanea tarda.

PubMed ID: 10338097

DOI: 10.1002/(sici)1098-1004(1999)13:5<412::aid-humu13>3.0.co;2-n

PubMed ID: 10477430

Title: Screening for mutations in the uroporphyrinogen decarboxylase gene using denaturing gradient gel electrophoresis. Identification and characterization of six novel mutations associated with familial PCT.

PubMed ID: 10477430

DOI: 10.1002/(sici)1098-1004(1999)14:3<222::aid-humu5>3.0.co;2-v

PubMed ID: 11069625

Title: Co-inheritance of mutations in the uroporphyrinogen decarboxylase and hemochromatosis genes accelerates the onset of porphyria cutanea tarda.

PubMed ID: 11069625

DOI: 10.1046/j.1523-1747.2000.00148.x

PubMed ID: 11295834

Title: Seven novel point mutations in the uroporphyrinogen decarboxylase (UROD) gene in patients with familial porphyria cutanea tarda (f-PCT).

PubMed ID: 11295834

DOI: 10.1002/humu.35

PubMed ID: 12071824

Title: Description of a new mutation in hepatoerythropoietic porphyria and prenatal exclusion of a homozygous fetus.

PubMed ID: 12071824

DOI: 10.1001/archderm.138.7.957

PubMed ID: 15491440

Title: Hepatoerythropoietic porphyria: a missense mutation in the UROD gene is associated with mild disease and an unusual porphyrin excretion pattern.

PubMed ID: 15491440

DOI: 10.1111/j.1365-2133.2004.06101.x

PubMed ID: 17240319

Title: Two novel uroporphyrinogen decarboxylase (URO-D) mutations causing hepatoerythropoietic porphyria (HEP).

PubMed ID: 17240319

DOI: 10.1016/j.trsl.2006.08.006

PubMed ID: 21668429

Title: Hepatoerythropoietic porphyria due to a novel mutation in the uroporphyrinogen decarboxylase gene.

PubMed ID: 21668429

DOI: 10.1111/j.1365-2133.2011.10453.x

Sequence Information:

  • Length: 367
  • Mass: 40787
  • Checksum: 840510B36CFC3856
  • Sequence:
    • MEANGLGPQG FPELKNDTFL RAAWGEETDY TPVWCMRQAG RYLPEFRETR AAQDFFSTCR 
SPEACCELTL QPLRRFPLDA AIIFSDILVV PQALGMEVTM VPGKGPSFPE PLREEQDLER 
LRDPEVVASE LGYVFQAITL TRQRLAGRVP LIGFAGAPWT LMTYMVEGGG SSTMAQAKRW 
LYQRPQASHQ LLRILTDALV PYLVGQVVAG AQALQLFESH AGHLGPQLFN KFALPYIRDV 
AKQVKARLRE AGLAPVPMII FAKDGHFALE ELAQAGYEVV GLDWTVAPKK ARECVGKTVT 
LQGNLDPCAL YASEEEIGQL VKQMLDDFGP HRYIANLGHG LYPDMDPEHV GAFVDAVHKH 
SRLLRQN

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.