Details for: PSMB8

Gene ID: 5696

Symbol: PSMB8

Ensembl ID: ENSG00000204264

Description: proteasome 20S subunit beta 8

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: polychromatophilic erythroblast (CL0000550)
    Fold Change: 271.3359
    Cell Significance Index: -42.2100
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 100.4500
    Cell Significance Index: -51.6700
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 99.4445
    Cell Significance Index: -46.9500
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 76.5248
    Cell Significance Index: -19.4100
  • Cell Name: ileal goblet cell (CL1000326)
    Fold Change: 70.0573
    Cell Significance Index: -47.0100
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 34.5876
    Cell Significance Index: -42.6500
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 13.3911
    Cell Significance Index: -41.1300
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 11.0984
    Cell Significance Index: -43.8000
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 6.8492
    Cell Significance Index: -14.9900
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: 6.2423
    Cell Significance Index: 183.3300
  • Cell Name: oral mucosa squamous cell (CL1001576)
    Fold Change: 3.2329
    Cell Significance Index: 27.7800
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: 3.2290
    Cell Significance Index: 59.6800
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: 2.9171
    Cell Significance Index: 33.1400
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 2.8489
    Cell Significance Index: 183.8000
  • Cell Name: vascular lymphangioblast (CL0005022)
    Fold Change: 2.2421
    Cell Significance Index: 39.6200
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 2.2090
    Cell Significance Index: 260.5100
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 2.1875
    Cell Significance Index: -5.8600
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 1.5967
    Cell Significance Index: 75.0500
  • Cell Name: peg cell (CL4033014)
    Fold Change: 1.5167
    Cell Significance Index: 35.0400
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 1.0749
    Cell Significance Index: 55.8400
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 1.0535
    Cell Significance Index: 144.6800
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.9696
    Cell Significance Index: 119.2200
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.9453
    Cell Significance Index: 417.9600
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.8860
    Cell Significance Index: 159.7200
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 0.8562
    Cell Significance Index: 110.6200
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.8030
    Cell Significance Index: 87.3500
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.7012
    Cell Significance Index: 382.9500
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.6463
    Cell Significance Index: 63.9400
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.6391
    Cell Significance Index: 17.1000
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 0.6005
    Cell Significance Index: 15.7900
  • Cell Name: prostate gland microvascular endothelial cell (CL2000059)
    Fold Change: 0.5507
    Cell Significance Index: 3.9600
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: 0.5206
    Cell Significance Index: 7.8000
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.5172
    Cell Significance Index: 66.3000
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 0.4750
    Cell Significance Index: 12.9300
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 0.3965
    Cell Significance Index: 28.0400
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.3339
    Cell Significance Index: 63.5500
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.3110
    Cell Significance Index: 21.5100
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: 0.3055
    Cell Significance Index: 35.0100
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.2988
    Cell Significance Index: 13.9300
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.0636
    Cell Significance Index: 57.4100
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0625
    Cell Significance Index: 2.2000
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 0.0413
    Cell Significance Index: 3.0800
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: 0.0309
    Cell Significance Index: 23.3900
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.0168
    Cell Significance Index: 2.8700
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.0013
    Cell Significance Index: 0.1300
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.0093
    Cell Significance Index: -0.4700
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0098
    Cell Significance Index: -7.2600
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0191
    Cell Significance Index: -36.0400
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0217
    Cell Significance Index: -15.9400
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0255
    Cell Significance Index: -47.0200
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0307
    Cell Significance Index: -47.2400
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0343
    Cell Significance Index: -19.3500
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0343
    Cell Significance Index: -21.4000
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0354
    Cell Significance Index: -48.1700
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: -0.0712
    Cell Significance Index: -2.9200
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0725
    Cell Significance Index: -46.0300
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.0785
    Cell Significance Index: -2.2500
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.1070
    Cell Significance Index: -48.5700
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.1078
    Cell Significance Index: -22.7000
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: -0.1111
    Cell Significance Index: -22.0400
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.1113
    Cell Significance Index: -3.1100
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: -0.1242
    Cell Significance Index: -44.5400
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.1280
    Cell Significance Index: -3.2700
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.1738
    Cell Significance Index: -5.5700
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.1850
    Cell Significance Index: -21.5600
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.2036
    Cell Significance Index: -5.0900
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: -0.2267
    Cell Significance Index: -45.4900
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.2379
    Cell Significance Index: -27.1600
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: -0.2419
    Cell Significance Index: -10.9700
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.2561
    Cell Significance Index: -37.2300
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: -0.2566
    Cell Significance Index: -5.5600
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.2850
    Cell Significance Index: -6.0700
  • Cell Name: hepatic pit cell (CL2000054)
    Fold Change: -0.3098
    Cell Significance Index: -0.8300
  • Cell Name: CD4-positive, alpha-beta thymocyte (CL0000810)
    Fold Change: -0.3527
    Cell Significance Index: -6.0800
  • Cell Name: tuft cell of small intestine (CL0009080)
    Fold Change: -0.3559
    Cell Significance Index: -3.5900
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: -0.4192
    Cell Significance Index: -5.7200
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.4276
    Cell Significance Index: -44.5200
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: -0.5001
    Cell Significance Index: -4.6100
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.5636
    Cell Significance Index: -44.6400
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.5663
    Cell Significance Index: -43.4600
  • Cell Name: mature alpha-beta T cell (CL0000791)
    Fold Change: -0.5979
    Cell Significance Index: -3.2600
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.6259
    Cell Significance Index: -32.8600
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.6662
    Cell Significance Index: -11.1500
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.7038
    Cell Significance Index: -44.3600
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.7749
    Cell Significance Index: -47.5100
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.8017
    Cell Significance Index: -44.9900
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: -0.8266
    Cell Significance Index: -23.8200
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: -0.9824
    Cell Significance Index: -10.1700
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: -0.9908
    Cell Significance Index: -20.1600
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -1.0273
    Cell Significance Index: -45.4400
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -1.0363
    Cell Significance Index: -38.0400
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -1.1462
    Cell Significance Index: -33.7600
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -1.1855
    Cell Significance Index: -41.5300
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -1.2005
    Cell Significance Index: -45.4600
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: -1.2774
    Cell Significance Index: -21.4900
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -1.2820
    Cell Significance Index: -44.5500
  • Cell Name: epithelial cell of pancreas (CL0000083)
    Fold Change: -1.3102
    Cell Significance Index: -21.5900
  • Cell Name: endothelial cell of placenta (CL0009092)
    Fold Change: -1.3191
    Cell Significance Index: -7.9700
  • Cell Name: keratinocyte (CL0000312)
    Fold Change: -1.3269
    Cell Significance Index: -33.1400
  • Cell Name: CD14-positive monocyte (CL0001054)
    Fold Change: -1.3301
    Cell Significance Index: -26.0100

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** The PSMB8 protein is a beta subunit of the 20S proteasome, which is a large protein complex that consists of 28 subunits, including alpha, beta, and gamma subunits. The 20S proteasome is responsible for degrading proteins that are marked for destruction, including damaged or unneeded proteins, antigens, and proteins involved in cell cycle regulation. PSMB8 is one of the eight beta subunits that make up the 20S proteasome, and it plays a crucial role in the degradation of proteins. **Pathways and Functions** The PSMB8 gene is involved in various cellular processes, including: 1. **Antigen processing and presentation**: The 20S proteasome, which contains the PSMB8 protein, is responsible for degrading antigens that are processed and presented by antigen-presenting cells, such as dendritic cells and macrophages. 2. **Cell cycle regulation**: The 20S proteasome plays a crucial role in regulating the cell cycle by degrading proteins that are involved in cell cycle progression. 3. **Apoptosis**: The 20S proteasome is involved in regulating apoptosis (programmed cell death) by degrading proteins that are involved in apoptosis signaling pathways. 4. **Immune system regulation**: The PSMB8 protein is expressed in various immune cells, including monocytes, dendritic cells, T cells, and endothelial cells, and plays a crucial role in regulating immune responses. 5. **Protein degradation**: The 20S proteasome, which contains the PSMB8 protein, is responsible for degrading proteins that are marked for destruction, including damaged or unneeded proteins. **Clinical Significance** Dysregulation of the PSMB8 gene has been implicated in various diseases, including: 1. **Autoimmune diseases**: Dysregulation of the 20S proteasome, which contains the PSMB8 protein, has been implicated in autoimmune diseases, such as rheumatoid arthritis and multiple sclerosis. 2. **Cancer**: The 20S proteasome, which contains the PSMB8 protein, is involved in cancer development and progression by degrading proteins that are involved in cell cycle regulation and apoptosis. 3. **Neurodegenerative diseases**: Dysregulation of the 20S proteasome, which contains the PSMB8 protein, has been implicated in neurodegenerative diseases, such as Alzheimer's disease and Parkinson's disease. 4. **Immune system disorders**: The PSMB8 protein is expressed in various immune cells, and dysregulation of the PSMB8 gene has been implicated in immune system disorders, such as immunodeficiency diseases and autoimmune diseases. In conclusion, the PSMB8 gene plays a crucial role in various cellular processes, including antigen processing and presentation, cell cycle regulation, apoptosis, and immune system regulation. Dysregulation of the PSMB8 gene has been implicated in various diseases, including autoimmune diseases, cancer, neurodegenerative diseases, and immune system disorders.

Genular Protein ID: 346465229

Symbol: PSB8_HUMAN

Name: Proteasome subunit beta type-8

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 8458375

Title: The major histocompatibility complex-encoded proteasome component LMP7: alternative first exons and post-translational processing.

PubMed ID: 8458375

DOI: 10.1002/eji.1830230414

PubMed ID: 1453454

Title: DNA sequence analysis of 66 kb of the human MHC class II region encoding a cluster of genes for antigen processing.

PubMed ID: 1453454

DOI: 10.1016/0022-2836(92)90832-5

PubMed ID: 1922342

Title: A proteasome-related gene between the two ABC transporter loci in the class II region of the human MHC.

PubMed ID: 1922342

DOI: 10.1038/353357a0

PubMed ID: 1429565

Title: Alternative exon usage and processing of the major histocompatibility complex-encoded proteasome subunits.

PubMed ID: 1429565

DOI: 10.1016/s0021-9258(18)41645-6

PubMed ID: 8344725

Title: Different genomic structure of mouse and human Lmp7 genes: characterization of MHC-encoded proteasome genes.

PubMed ID: 8344725

DOI: 10.1007/bf00210482

PubMed ID: 8568858

Title: Evolutionary dynamics of non-coding sequences within the class II region of the human MHC.

PubMed ID: 8568858

DOI: 10.1006/jmbi.1996.0001

PubMed ID: 14574404

Title: The DNA sequence and analysis of human chromosome 6.

PubMed ID: 14574404

DOI: 10.1038/nature02055

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: 9157092

Title: Two newly discovered alleles of major histocompatibility complex-encoded LMP7 in Korean populations.

PubMed ID: 9157092

DOI: 10.1016/0198-8859(95)00172-7

PubMed ID: 8163024

Title: Replacement of proteasome subunits X and Y by LMP7 and LMP2 induced by interferon-gamma for acquirement of the functional diversity responsible for antigen processing.

PubMed ID: 8163024

DOI: 10.1016/0014-5793(94)80612-8

PubMed ID: 8663318

Title: Proteasome subunits X and Y alter peptidase activities in opposite ways to the interferon-gamma-induced subunits LMP2 and LMP7.

PubMed ID: 8663318

DOI: 10.1074/jbc.271.29.17275

PubMed ID: 11493458

Title: Tumor necrosis factor-alpha induces coordinated changes in major histocompatibility class I presentation pathway, resulting in increased stability of class I complexes at the cell surface.

PubMed ID: 11493458

DOI: 10.1182/blood.v98.4.1108

PubMed ID: 11717192

Title: Bipartite regulation of different components of the MHC class I antigen-processing machinery during dendritic cell maturation.

PubMed ID: 11717192

DOI: 10.1093/intimm/13.12.1515

PubMed ID: 14550573

Title: Human immunodeficiency virus-1 Tat protein interacts with distinct proteasomal alpha and beta subunits.

PubMed ID: 14550573

DOI: 10.1016/s0014-5793(03)01025-1

PubMed ID: 15501285

Title: Potential effects of tetrodotoxin exposure to human glial cells postulated using microarray approach.

PubMed ID: 15501285

DOI: 10.1016/j.toxicon.2004.07.018

PubMed ID: 15907481

Title: IRF-1 mediates upregulation of LMP7 by IFN-gamma and concerted expression of immunosubunits of the proteasome.

PubMed ID: 15907481

DOI: 10.1016/j.febslet.2005.04.012

PubMed ID: 15488952

Title: Cytoplasmic domains of the transporter associated with antigen processing and P-glycoprotein interact with subunits of the proteasome.

PubMed ID: 15488952

DOI: 10.1016/j.molimm.2004.07.005

PubMed ID: 15944226

Title: IFN-gamma-induced immune adaptation of the proteasome system is an accelerated and transient response.

PubMed ID: 15944226

DOI: 10.1073/pnas.0501711102

PubMed ID: 16423992

Title: Tumor cell lines expressing the proteasome subunit isoform LMP7E1 exhibit immunoproteasome deficiency.

PubMed ID: 16423992

DOI: 10.1158/0008-5472.can-05-2872

PubMed ID: 17142736

Title: Heat shock up-regulates lmp2 and lmp7 and enhances presentation of immunoproteasome-dependent epitopes.

PubMed ID: 17142736

DOI: 10.4049/jimmunol.177.12.8393

PubMed ID: 17262812

Title: Genome-wide gene expression differences in Crohn's disease and ulcerative colitis from endoscopic pinch biopsies: insights into distinctive pathogenesis.

PubMed ID: 17262812

DOI: 10.1002/ibd.20110

PubMed ID: 18669648

Title: A quantitative atlas of mitotic phosphorylation.

PubMed ID: 18669648

DOI: 10.1073/pnas.0805139105

PubMed ID: 19443843

Title: Cardiovascular inflammation and lesion cell apoptosis: a novel connection via the interferon-inducible immunoproteasome.

PubMed ID: 19443843

DOI: 10.1161/atvbaha.109.189407

PubMed ID: 19619915

Title: Herpes simplex virus type I infection of mature dendritic cells leads to reduced LMP7-mRNA-expression levels.

PubMed ID: 19619915

DOI: 10.1016/j.imbio.2009.06.020

PubMed ID: 19525961

Title: A selective inhibitor of the immunoproteasome subunit LMP7 blocks cytokine production and attenuates progression of experimental arthritis.

PubMed ID: 19525961

DOI: 10.1038/nm.1978

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 21881205

Title: A mutation in the immunoproteasome subunit PSMB8 causes autoinflammation and lipodystrophy in humans.

PubMed ID: 21881205

DOI: 10.1172/jci58414

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 25944712

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

PubMed ID: 25944712

DOI: 10.1002/pmic.201400617

PubMed ID: 27049119

Title: Proteasomes generate spliced epitopes by two different mechanisms and as efficiently as non-spliced epitopes.

PubMed ID: 27049119

DOI: 10.1038/srep24032

PubMed ID: 21129723

Title: PSMB8 encoding the beta5i proteasome subunit is mutated in joint contractures, muscle atrophy, microcytic anemia, and panniculitis-induced lipodystrophy syndrome.

PubMed ID: 21129723

DOI: 10.1016/j.ajhg.2010.10.031

PubMed ID: 21953331

Title: Mutations in proteasome subunit beta type 8 cause chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature with evidence of genetic and phenotypic heterogeneity.

PubMed ID: 21953331

DOI: 10.1002/art.33368

PubMed ID: 21852578

Title: Proteasome assembly defect due to a proteasome subunit beta type 8 (PSMB8) mutation causes the autoinflammatory disorder, Nakajo-Nishimura syndrome.

PubMed ID: 21852578

DOI: 10.1073/pnas.1106015108

PubMed ID: 26524591

Title: Additive loss-of-function proteasome subunit mutations in CANDLE/PRAAS patients promote type I IFN production.

PubMed ID: 26524591

DOI: 10.1172/jci81260

PubMed ID: 26567544

Title: CANDLE syndrome: chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature-a rare case with a novel mutation.

PubMed ID: 26567544

DOI: 10.1007/s00431-015-2668-4

Sequence Information:

  • Length: 276
  • Mass: 30354
  • Checksum: 4F689501677DBD44
  • Sequence:
  • MALLDVCGAP RGQRPESALP VAGSGRRSDP GHYSFSMRSP ELALPRGMQP TEFFQSLGGD 
    GERNVQIEMA HGTTTLAFKF QHGVIAAVDS RASAGSYISA LRVNKVIEIN PYLLGTMSGC 
    AADCQYWERL LAKECRLYYL RNGERISVSA ASKLLSNMMC QYRGMGLSMG SMICGWDKKG 
    PGLYYVDEHG TRLSGNMFST GSGNTYAYGV MDSGYRPNLS PEEAYDLGRR AIAYATHRDS 
    YSGGVVNMYH MKEDGWVKVE STDVSDLLHQ YREANQ

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.