Details for: PPOX

Gene ID: 5498

Symbol: PPOX

Ensembl ID: ENSG00000143224

Description: protoporphyrinogen oxidase

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: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 49.8337
    Cell Significance Index: -12.6400
  • Cell Name: embryonic stem cell (CL0002322)
    Fold Change: 37.6990
    Cell Significance Index: -15.5300
  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 33.5594
    Cell Significance Index: -5.2200
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 29.5872
    Cell Significance Index: -12.0200
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 12.5898
    Cell Significance Index: -12.0200
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 9.4326
    Cell Significance Index: -11.6300
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 4.7707
    Cell Significance Index: -12.7800
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 3.7227
    Cell Significance Index: -14.6900
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 2.7837
    Cell Significance Index: -8.5500
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 2.2891
    Cell Significance Index: -5.0100
  • Cell Name: decidual cell (CL2000002)
    Fold Change: 1.4564
    Cell Significance Index: 23.3700
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 1.0819
    Cell Significance Index: 107.0200
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.8487
    Cell Significance Index: 766.3400
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.6344
    Cell Significance Index: 69.0100
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.5315
    Cell Significance Index: 86.4400
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.4793
    Cell Significance Index: 30.2100
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.3765
    Cell Significance Index: 19.5600
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.3682
    Cell Significance Index: 16.6900
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.3398
    Cell Significance Index: 9.7900
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.3177
    Cell Significance Index: 21.9700
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.2785
    Cell Significance Index: 55.8600
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.2666
    Cell Significance Index: 50.7400
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 0.2646
    Cell Significance Index: 3.6100
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.2483
    Cell Significance Index: 5.3800
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.2476
    Cell Significance Index: 49.1300
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.2326
    Cell Significance Index: 127.0300
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.2320
    Cell Significance Index: 160.4700
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.2312
    Cell Significance Index: 6.4600
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 0.2271
    Cell Significance Index: 26.4700
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.2198
    Cell Significance Index: 10.2500
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 0.1838
    Cell Significance Index: 9.6500
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.1776
    Cell Significance Index: 63.6900
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.1537
    Cell Significance Index: 19.7000
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.1502
    Cell Significance Index: 20.6300
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: 0.1436
    Cell Significance Index: 4.9900
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 0.1317
    Cell Significance Index: 3.5900
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 0.1224
    Cell Significance Index: 2.6800
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 0.1189
    Cell Significance Index: 7.3100
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.0975
    Cell Significance Index: 43.0900
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 0.0863
    Cell Significance Index: 2.2700
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: 0.0849
    Cell Significance Index: 4.4200
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 0.0730
    Cell Significance Index: 9.4400
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.0718
    Cell Significance Index: 1.9300
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.0694
    Cell Significance Index: 8.5300
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.0670
    Cell Significance Index: 7.9000
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.0643
    Cell Significance Index: 1.3700
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.0633
    Cell Significance Index: 11.4200
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 0.0518
    Cell Significance Index: 3.6600
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.0496
    Cell Significance Index: 1.2400
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 0.0386
    Cell Significance Index: 2.8800
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: 0.0333
    Cell Significance Index: 0.7000
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 0.0215
    Cell Significance Index: 1.3900
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: 0.0187
    Cell Significance Index: 0.3200
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0137
    Cell Significance Index: 25.7600
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0054
    Cell Significance Index: 8.3700
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0050
    Cell Significance Index: 9.2100
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.0029
    Cell Significance Index: 0.2200
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.0005
    Cell Significance Index: 0.7100
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.0001
    Cell Significance Index: 0.0700
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.0027
    Cell Significance Index: -0.1000
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.0034
    Cell Significance Index: -0.0700
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0088
    Cell Significance Index: -6.4700
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0162
    Cell Significance Index: -12.2900
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0179
    Cell Significance Index: -13.2400
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0186
    Cell Significance Index: -8.4200
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: -0.0231
    Cell Significance Index: -0.2700
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0238
    Cell Significance Index: -13.4100
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0253
    Cell Significance Index: -3.6800
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0258
    Cell Significance Index: -16.1000
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.0277
    Cell Significance Index: -0.7400
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0306
    Cell Significance Index: -3.1300
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0346
    Cell Significance Index: -5.9000
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.0353
    Cell Significance Index: -1.9800
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.0357
    Cell Significance Index: -1.6800
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0431
    Cell Significance Index: -12.4100
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.0454
    Cell Significance Index: -0.7600
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.0596
    Cell Significance Index: -1.9100
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0649
    Cell Significance Index: -7.4300
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0740
    Cell Significance Index: -15.5900
  • Cell Name: peg cell (CL4033014)
    Fold Change: -0.0827
    Cell Significance Index: -1.9100
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.0869
    Cell Significance Index: -2.2200
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.0889
    Cell Significance Index: -5.9800
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: -0.0961
    Cell Significance Index: -1.4400
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.1030
    Cell Significance Index: -2.7500
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.1309
    Cell Significance Index: -13.6300
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: -0.1359
    Cell Significance Index: -3.2600
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: -0.1382
    Cell Significance Index: -4.0600
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.1470
    Cell Significance Index: -11.6400
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.1483
    Cell Significance Index: -6.5600
  • Cell Name: basal cell of epidermis (CL0002187)
    Fold Change: -0.1587
    Cell Significance Index: -2.4100
  • Cell Name: skeletal muscle myoblast (CL0000515)
    Fold Change: -0.1619
    Cell Significance Index: -1.7600
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.1760
    Cell Significance Index: -10.7900
  • Cell Name: myeloid lineage restricted progenitor cell (CL0000839)
    Fold Change: -0.1853
    Cell Significance Index: -2.6000
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.1860
    Cell Significance Index: -4.7800
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.1975
    Cell Significance Index: -7.4800
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: -0.2061
    Cell Significance Index: -4.4100
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.2104
    Cell Significance Index: -6.2000
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.2268
    Cell Significance Index: -6.5000
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: -0.2347
    Cell Significance Index: -4.5800
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.2549
    Cell Significance Index: -3.6500

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:** PPOX is a ferredoxin-dependent enzyme, which means it requires the presence of reduced ferredoxin to facilitate the oxidation reaction. This enzyme is also sensitive to oxygen and is inhibited by oxygen, highlighting its unique characteristics. PPOX is primarily expressed in cells involved in heme biosynthesis, such as erythrocytes, neurons, and certain types of epithelial cells. The enzyme is also found in various tissues, including the brain, heart, and lungs. **Pathways and Functions:** PPOX is involved in several key pathways, including: 1. **Heme biosynthesis:** PPOX catalyzes the oxidation of protoporphyrinogen IX to protoporphyrin IX, a step that is essential for the formation of heme. 2. **Ferredoxin-dependent reactions:** PPOX requires reduced ferredoxin to facilitate the oxidation reaction, highlighting its dependence on this co-factor. 3. **Heme-containing compound biosynthesis:** PPOX is involved in the biosynthesis of heme-containing compounds, such as myoglobin and cytochromes. 4. **Mitochondrial inner membrane and intermembrane space:** PPOX is localized to the mitochondrial inner membrane and intermembrane space, where it plays a critical role in regulating heme biosynthesis. **Clinical Significance:** Dysregulation of PPOX has been implicated in various diseases, including: 1. **Erythropoietic disorders:** Mutations in the PPOX gene have been associated with erythropoietic disorders, such as sideroblastic anemia. 2. **Neurodegenerative diseases:** PPOX has been implicated in neurodegenerative diseases, such as Alzheimer's disease and Parkinson's disease, where heme biosynthesis is disrupted. 3. **Cancer:** PPOX has been found to be overexpressed in certain types of cancer, including lung and breast cancer. 4. **Porphyrin disorders:** PPOX is involved in the biosynthesis of porphyrins, which are critical for the production of heme. Mutations in the PPOX gene have been associated with porphyria cutanea tarda, a disorder characterized by skin blistering and scarring. In conclusion, PPOX is a vital enzyme involved in heme biosynthesis, and its dysregulation has significant implications for various diseases. Further research is necessary to fully understand the role of PPOX in metabolic pathways and its clinical significance.

Genular Protein ID: 602988283

Symbol: PPOX_HUMAN

Name: Protoporphyrinogen oxidase

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 7713909

Title: Cloning of a human cDNA for protoporphyrinogen oxidase by complementation in vivo of a hemG mutant of Escherichia coli.

PubMed ID: 7713909

DOI: 10.1074/jbc.270.14.8076

PubMed ID: 8771201

Title: Human protoporphyrinogen oxidase: expression, purification, and characterization of the cloned enzyme.

PubMed ID: 8771201

DOI: 10.1002/pro.5560050112

PubMed ID: 8806618

Title: Protoporphyrinogen oxidase: complete genomic sequence and polymorphisms in the human gene.

PubMed ID: 8806618

DOI: 10.1006/bbrc.1996.1337

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: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 25944712

Title: N-terminome analysis of the human mitochondrial proteome.

PubMed ID: 25944712

DOI: 10.1002/pmic.201400617

PubMed ID: 21048046

Title: Structural insight into human variegate porphyria disease.

PubMed ID: 21048046

DOI: 10.1096/fj.10-170811

PubMed ID: 23467411

Title: Quantitative structural insight into human variegate porphyria disease.

PubMed ID: 23467411

DOI: 10.1074/jbc.m113.459768

PubMed ID: 8852667

Title: Mutations in the protoporphyrinogen oxidase gene in patients with variegate porphyria.

PubMed ID: 8852667

DOI: 10.1093/hmg/5.3.407

PubMed ID: 8817334

Title: Identification of three mutations and associated haplotypes in the protoporphyrinogen oxidase gene in South African families with variegate porphyria.

PubMed ID: 8817334

DOI: 10.1093/hmg/5.7.981

PubMed ID: 8673113

Title: A R59W mutation in human protoporphyrinogen oxidase results in decreased enzyme activity and is prevalent in South Africans with variegate porphyria.

PubMed ID: 8673113

DOI: 10.1038/ng0596-95

PubMed ID: 9763307

Title: The genetic basis of 'Scarsdale Gourmet Diet' variegate porphyria: a missense mutation in the protoporphyrinogen oxidase gene.

PubMed ID: 9763307

DOI: 10.1007/s004030050333

PubMed ID: 9541112

Title: Molecular basis of variegate porphyria: a missense mutation in the protoporphyrinogen oxidase gene.

PubMed ID: 9541112

DOI: 10.1136/jmg.35.3.244

PubMed ID: 9811936

Title: Molecular characterization of homozygous variegate porphyria.

PubMed ID: 9811936

DOI: 10.1093/hmg/7.12.1921

PubMed ID: 10486317

Title: Variegate porphyria in Western Europe: identification of PPOX gene mutations in 104 families, extent of allelic heterogeneity, and absence of correlation between phenotype and type of mutation.

PubMed ID: 10486317

DOI: 10.1086/302586

PubMed ID: 11074242

Title: Three novel mutations in the protoporphyrinogen oxidase gene in Japanese patients with variegate porphyria.

PubMed ID: 11074242

DOI: 10.1016/s0009-9120(00)00142-9

PubMed ID: 11102990

Title: Two new mutations (H106P and L178V) in the protoporphyrinogen oxidase gene in Argentinean patients with variegate porphyria.

PubMed ID: 11102990

DOI: 10.1002/1098-1004(200012)16:6<532::aid-humu18>3.0.co;2-s

PubMed ID: 10870850

Title: Homozygous variegate porphyria in South Africa: genotypic analysis in two cases.

PubMed ID: 10870850

DOI: 10.1006/mgme.2000.2975

PubMed ID: 11286631

Title: Homozygous variegate porphyria: 20 y follow-up and characterization of molecular defect.

PubMed ID: 11286631

DOI: 10.1046/j.1523-1747.2001.01293.x

PubMed ID: 11348478

Title: A spectrum of novel mutations in the protoporphyrinogen oxidase gene in 13 families with variegate porphyria.

PubMed ID: 11348478

DOI: 10.1046/j.1523-1747.2001.01308.x

PubMed ID: 11350188

Title: Identification of the first variegate porphyria mutation in an indigenous black South African and further evidence for heterogeneity in variegate porphyria.

PubMed ID: 11350188

DOI: 10.1006/mgme.2001.3163

PubMed ID: 11474578

Title: Expression and characterization of six mutations in the protoporphyrinogen oxidase gene among Finnish variegate porphyria patients.

PubMed ID: 11474578

PubMed ID: 12380696

Title: Variegate porphyria in Western Australian Aboriginal patients.

PubMed ID: 12380696

DOI: 10.1046/j.1445-5994.2002.00274.x

PubMed ID: 12922165

Title: Kinetic and physical characterisation of recombinant wild-type and mutant human protoporphyrinogen oxidases.

PubMed ID: 12922165

DOI: 10.1016/s1570-9639(03)00186-9

PubMed ID: 12859407

Title: Nine novel mutations in the protoporphyrinogen oxidase gene in Swedish families with variegate porphyria.

PubMed ID: 12859407

DOI: 10.1034/j.1399-0004.2003.00116.x

PubMed ID: 12655566

Title: Genetic analysis of variegate porphyria (VP) in Italy: identification of six novel mutations in the protoporphyrinogen oxidase (PPOX) gene.

PubMed ID: 12655566

DOI: 10.1002/humu.9125

PubMed ID: 14669009

Title: Modulation of penetrance by the wild-type allele in dominantly inherited erythropoietic protoporphyria and acute hepatic porphyrias.

PubMed ID: 14669009

DOI: 10.1007/s00439-003-1059-5

PubMed ID: 16433813

Title: A Chilean boy with severe photosensitivity and finger shortening: the first case of homozygous variegate porphyria in South America.

PubMed ID: 16433813

DOI: 10.1111/j.1365-2133.2005.06978.x

PubMed ID: 16621625

Title: Mitochondrial targeting of human protoporphyrinogen oxidase.

PubMed ID: 16621625

DOI: 10.1016/j.cellbi.2006.02.001

PubMed ID: 16922948

Title: Genetic studies in variegate porphyria in Spain. Identification of gene mutations and family study for carrier detection.

PubMed ID: 16922948

DOI: 10.1111/j.1468-3083.2006.01705.x

PubMed ID: 16947091

Title: Swiss patients with variegate porphyria have unique mutations.

PubMed ID: 16947091

DOI: 10.4414/smw.2006.11472

PubMed ID: 18350656

Title: Novel human pathological mutations. Gene symbol: PPOX. Disease: porphyria, variegate.

PubMed ID: 18350656

PubMed ID: 18570668

Title: Genetic and biochemical studies in Argentinean patients with variegate porphyria.

PubMed ID: 18570668

DOI: 10.1186/1471-2350-9-54

PubMed ID: 19320019

Title: Novel human pathological mutations. Gene symbol: PPOX. Disease: porphyria, variegate.

PubMed ID: 19320019

PubMed ID: 23430901

Title: Functional characterization of five protoporphyrinogen oxidase missense mutations found in Argentinean variegate porphyria patients.

PubMed ID: 23430901

DOI: 10.1007/8904_2011_77

PubMed ID: 24073655

Title: Homozygous variegate porphyria presenting with developmental and language delay in childhood.

PubMed ID: 24073655

DOI: 10.1111/ced.12071

PubMed ID: 33159949

Title: Novel PPOX exonic mutation inducing aberrant splicing in a patient with homozygous variegate porphyria.

PubMed ID: 33159949

DOI: 10.1016/j.cca.2020.10.033

Sequence Information:

  • Length: 477
  • Mass: 50765
  • Checksum: 2444DEAC2E6C33EE
  • Sequence:
  • MGRTVVVLGG GISGLAASYH LSRAPCPPKV VLVESSERLG GWIRSVRGPN GAIFELGPRG 
    IRPAGALGAR TLLLVSELGL DSEVLPVRGD HPAAQNRFLY VGGALHALPT GLRGLLRPSP 
    PFSKPLFWAG LRELTKPRGK EPDETVHSFA QRRLGPEVAS LAMDSLCRGV FAGNSRELSI 
    RSCFPSLFQA EQTHRSILLG LLLGAGRTPQ PDSALIRQAL AERWSQWSLR GGLEMLPQAL 
    ETHLTSRGVS VLRGQPVCGL SLQAEGRWKV SLRDSSLEAD HVISAIPASV LSELLPAEAA 
    PLARALSAIT AVSVAVVNLQ YQGAHLPVQG FGHLVPSSED PGVLGIVYDS VAFPEQDGSP 
    PGLRVTVMLG GSWLQTLEAS GCVLSQELFQ QRAQEAAATQ LGLKEMPSHC LVHLHKNCIP 
    QYTLGHWQKL ESARQFLTAH RLPLTLAGAS YEGVAVNDCI ESGRQAAVSV LGTEPNS

Genular Protein ID: 1562724230

Symbol: B4DY76_HUMAN

Name: N/A

UniProtKB Accession Codes:

Database IDs:

Sequence Information:

  • Length: 444
  • Mass: 46843
  • Checksum: 5E77D9E07EFB7B9D
  • Sequence:
  • MGRTVVVLGG GISGLAASYH LSRAPCPPKV VLVESSERLG GWIRSVRGPN GAIFELGPRG 
    IRPAGALGAR TLLLACGEQV SELGLDSEVL PVRGDHPAAQ NRFLYVGGAL HALPTGLSPS 
    LTLKVASLAM DSLCRGVFAG NSRELSIRSC FPSLFQAEQT HRSILLGLLL GAGRTPQPDS 
    ALIRQALAER WSQWSLRGGL EMLPQALETH LTSRGVSVLR GQPVCGLSLQ AEGRWKVSLR 
    DSSLEADHVI SAIPASVLSE LLPAEAAPLA RALSAITAVS VAVVNLQYQG AHLPVQGFGH 
    LVPSSEDPGV LGIVYDSVAF PEQDGSPPGL RVTVMLGGSW LQTLEASGCV LSQELFQQRA 
    QEAAATQLGL KEMPSHCLVH LHKNCIPQYT LGHWQKLESA RQFLTAHRLP LTLAGASYEG 
    VAVNDCIESG RQAAVSVLGT EPNS

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.