Details for: HMBS

Gene ID: 3145

Symbol: HMBS

Ensembl ID: ENSG00000256269

Description: hydroxymethylbilane synthase

Associated with

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: proerythroblast (CL0000547)
    Fold Change: 1.78
    Marker Score: 1207
  • Cell Name: erythroid progenitor cell (CL0000038)
    Fold Change: 1.77
    Marker Score: 1850.5
  • Cell Name: mural cell (CL0008034)
    Fold Change: 1.47
    Marker Score: 168849
  • Cell Name: B-2 B cell (CL0000822)
    Fold Change: 1.46
    Marker Score: 1796.5
  • Cell Name: promyelocyte (CL0000836)
    Fold Change: 1.45
    Marker Score: 718.5
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 1.23
    Marker Score: 4843
  • Cell Name: primordial germ cell (CL0000670)
    Fold Change: 1.04
    Marker Score: 1300.5
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71763
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 47987
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30402
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2405
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.94
    Marker Score: 486
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.93
    Marker Score: 441
  • Cell Name: pulmonary interstitial fibroblast (CL0002241)
    Fold Change: 0.93
    Marker Score: 741
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: 0.92
    Marker Score: 3000
  • Cell Name: stem cell (CL0000034)
    Fold Change: 0.91
    Marker Score: 2157
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.91
    Marker Score: 2718
  • Cell Name: myeloid dendritic cell (CL0000782)
    Fold Change: 0.9
    Marker Score: 546.5
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.89
    Marker Score: 5107
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5257
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.86
    Marker Score: 310
  • Cell Name: tracheobronchial smooth muscle cell (CL0019019)
    Fold Change: 0.85
    Marker Score: 249
  • Cell Name: erythroid progenitor cell, mammalian (CL0001066)
    Fold Change: 0.83
    Marker Score: 267
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.83
    Marker Score: 1751
  • Cell Name: pneumocyte (CL0000322)
    Fold Change: 0.81
    Marker Score: 1297
  • Cell Name: erythroblast (CL0000765)
    Fold Change: 0.8
    Marker Score: 497
  • Cell Name: primitive red blood cell (CL0002355)
    Fold Change: 0.8
    Marker Score: 597
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.78
    Marker Score: 1267
  • Cell Name: plasmablast (CL0000980)
    Fold Change: 0.77
    Marker Score: 1018
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 0.76
    Marker Score: 1435.5
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.75
    Marker Score: 573
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.75
    Marker Score: 11706
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.74
    Marker Score: 298
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.73
    Marker Score: 378
  • Cell Name: osteoclast (CL0000092)
    Fold Change: 0.72
    Marker Score: 360.5
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: 0.72
    Marker Score: 2940
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.71
    Marker Score: 647
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: 0.7
    Marker Score: 742
  • Cell Name: oogonial cell (CL0000024)
    Fold Change: 0.68
    Marker Score: 973.5
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.66
    Marker Score: 170
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.66
    Marker Score: 2755
  • Cell Name: male germ cell (CL0000015)
    Fold Change: 0.64
    Marker Score: 185
  • Cell Name: reticulocyte (CL0000558)
    Fold Change: 0.63
    Marker Score: 268
  • Cell Name: epithelial cell of nephron (CL1000449)
    Fold Change: 0.62
    Marker Score: 1299
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: 0.62
    Marker Score: 409
  • Cell Name: epithelial cell of esophagus (CL0002252)
    Fold Change: 0.62
    Marker Score: 5324
  • Cell Name: kidney cell (CL1000497)
    Fold Change: 0.61
    Marker Score: 406
  • Cell Name: hematopoietic multipotent progenitor cell (CL0000837)
    Fold Change: 0.61
    Marker Score: 296.5
  • Cell Name: intestinal crypt stem cell (CL0002250)
    Fold Change: 0.59
    Marker Score: 223
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.59
    Marker Score: 20427
  • Cell Name: erythroid lineage cell (CL0000764)
    Fold Change: 0.57
    Marker Score: 286
  • Cell Name: nephron tubule epithelial cell (CL1000494)
    Fold Change: 0.56
    Marker Score: 131
  • Cell Name: erythrocyte (CL0000232)
    Fold Change: 0.55
    Marker Score: 306
  • Cell Name: epithelial cell (CL0000066)
    Fold Change: 0.55
    Marker Score: 869
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.54
    Marker Score: 434
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.54
    Marker Score: 1611
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 0.54
    Marker Score: 1101
  • Cell Name: pancreatic stellate cell (CL0002410)
    Fold Change: 0.54
    Marker Score: 340
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.54
    Marker Score: 535.5
  • Cell Name: precursor cell (CL0011115)
    Fold Change: 0.54
    Marker Score: 130
  • Cell Name: bronchial goblet cell (CL1000312)
    Fold Change: 0.53
    Marker Score: 263
  • Cell Name: type II pneumocyte (CL0002063)
    Fold Change: 0.53
    Marker Score: 3452
  • Cell Name: hematopoietic precursor cell (CL0008001)
    Fold Change: 0.53
    Marker Score: 185
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.53
    Marker Score: 338
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: 0.53
    Marker Score: 290
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: 0.52
    Marker Score: 885.5
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.52
    Marker Score: 310
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 0.51
    Marker Score: 165
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.51
    Marker Score: 1167
  • Cell Name: common myeloid progenitor (CL0000049)
    Fold Change: 0.51
    Marker Score: 135
  • Cell Name: B-1 B cell (CL0000819)
    Fold Change: 0.51
    Marker Score: 881
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.5
    Marker Score: 743
  • Cell Name: large pre-B-II cell (CL0000957)
    Fold Change: 0.5
    Marker Score: 1363.5
  • Cell Name: respiratory epithelial cell (CL0002368)
    Fold Change: 0.5
    Marker Score: 276
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.49
    Marker Score: 147
  • Cell Name: Unknown (CL0000548)
    Fold Change: 0.49
    Marker Score: 359
  • Cell Name: decidual cell (CL2000002)
    Fold Change: 0.49
    Marker Score: 2102
  • Cell Name: basal cell of epithelium of trachea (CL1000348)
    Fold Change: 0.48
    Marker Score: 3599
  • Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
    Fold Change: 0.48
    Marker Score: 337
  • Cell Name: blood cell (CL0000081)
    Fold Change: 0.48
    Marker Score: 5551
  • Cell Name: ovarian surface epithelial cell (CL2000064)
    Fold Change: 0.48
    Marker Score: 1293
  • Cell Name: IgM plasma cell (CL0000986)
    Fold Change: 0.47
    Marker Score: 165
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.47
    Marker Score: 5331.5
  • Cell Name: nasal mucosa goblet cell (CL0002480)
    Fold Change: 0.47
    Marker Score: 315
  • Cell Name: Leydig cell (CL0000178)
    Fold Change: 0.47
    Marker Score: 506
  • Cell Name: follicular B cell (CL0000843)
    Fold Change: 0.47
    Marker Score: 508.5
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 0.46
    Marker Score: 1082
  • Cell Name: plasma cell (CL0000786)
    Fold Change: 0.46
    Marker Score: 512
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: 0.45
    Marker Score: 2890.5
  • Cell Name: neural crest cell (CL0011012)
    Fold Change: 0.45
    Marker Score: 481
  • Cell Name: centrocyte (CL0009111)
    Fold Change: 0.45
    Marker Score: 107
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 0.45
    Marker Score: 186.5
  • Cell Name: enteric smooth muscle cell (CL0002504)
    Fold Change: 0.44
    Marker Score: 1038
  • Cell Name: cortical thymic epithelial cell (CL0002364)
    Fold Change: 0.43
    Marker Score: 1597.5
  • Cell Name: common dendritic progenitor (CL0001029)
    Fold Change: 0.43
    Marker Score: 149
  • Cell Name: dendritic cell, human (CL0001056)
    Fold Change: 0.43
    Marker Score: 438
  • Cell Name: pro-B cell (CL0000826)
    Fold Change: 0.43
    Marker Score: 414
  • Cell Name: extravillous trophoblast (CL0008036)
    Fold Change: 0.42
    Marker Score: 379
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.42
    Marker Score: 193
  • Cell Name: skeletal muscle satellite cell (CL0000594)
    Fold Change: 0.42
    Marker Score: 280

Hover over a box to see details here...

Hover over a box to see details here...

Hover over a box to see details here...

Other Information

**Key characteristics:** - It is a heme oxygenase enzyme that catalyzes the transfer of an oxygen atom from NADPH to coenzyme Q. - It is found in multiple tissues, including the liver, heart, brain, and placenta. - It is a highly regulated enzyme that is controlled by various factors, including oxygen tension, pH, and the availability of iron. **Pathways and functions:** - HMBS is involved in the biosynthesis of heme from precursors such as succinyl-CoA, glycine, and NADPH. - It is also involved in the biosynthesis of other porphyrin-containing compounds, such as protoporphyrinogen IX. - It plays a critical role in the production of coenzyme Q, which is essential for the electron transport chain and oxidative phosphorylation. **Clinical significance:** - Mutations in HMBS have been linked to several human diseases, including sickle cell anemia, thalassemia, and mitochondrial disorders. - These diseases are caused by mutations that disrupt the function of the HMBS enzyme, leading to a decrease in the production of coenzyme Q and other porphyrin-containing compounds. - HMBS inhibitors are being investigated as potential treatments for these diseases.

Genular Protein ID: 3121600223

Symbol: HEM3_HUMAN

Name: Hydroxymethylbilane synthase

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 2875434

Title: Molecular cloning and complete primary sequence of human erythrocyte porphobilinogen deaminase.

PubMed ID: 2875434

DOI: 10.1093/nar/14.15.5955

PubMed ID: 3816774

Title: Tissue-specific expression of porphobilinogen deaminase. Two isoenzymes from a single gene.

PubMed ID: 3816774

DOI: 10.1111/j.1432-1033.1987.tb10548.x

PubMed ID: 7916736

Title: Hydroxymethylbilane synthase: complete genomic sequence and amplifiable polymorphisms in the human gene.

PubMed ID: 7916736

DOI: 10.1006/geno.1993.1005

PubMed ID: 14702039

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

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 16554811

Title: Human chromosome 11 DNA sequence and analysis including novel gene identification.

PubMed ID: 16554811

DOI: 10.1038/nature04632

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: 3422427

Title: Alternative transcription and splicing of the human porphobilinogen deaminase gene result either in tissue-specific or in housekeeping expression.

PubMed ID: 3422427

DOI: 10.1073/pnas.85.1.6

PubMed ID: 2609111

Title: Porphobilinogen deaminase in human erythrocytes: purification of two forms with apparent molecular weights of 40 kDa and 42 kDa.

PubMed ID: 2609111

DOI: 10.3109/00365518909091544

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: 23186163

Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.

PubMed ID: 23186163

DOI: 10.1021/pr300630k

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: 19207107

Title: Structure of human porphobilinogen deaminase at 2.8 A: the molecular basis of acute intermittent porphyria.

PubMed ID: 19207107

DOI: 10.1042/bj20082077

PubMed ID: 18936296

Title: Structural insight into acute intermittent porphyria.

PubMed ID: 18936296

DOI: 10.1096/fj.08-115469

PubMed ID: 2243128

Title: Two different point G to A mutations in exon 10 of the porphobilinogen deaminase gene are responsible for acute intermittent porphyria.

PubMed ID: 2243128

DOI: 10.1172/jci114869

PubMed ID: 1714233

Title: Molecular heterogeneity of acute intermittent porphyria: identification of four additional mutations resulting in the CRIM-negative subtype of the disease.

PubMed ID: 1714233

PubMed ID: 1496994

Title: High frequency of mutations in exon 10 of the porphobilinogen deaminase gene in patients with a CRIM-positive subtype of acute intermittent porphyria.

PubMed ID: 1496994

PubMed ID: 1427766

Title: Detection of seven point mutations in the porphobilinogen deaminase gene in patients with acute intermittent porphyria, by direct sequencing of in vitro amplified cDNA.

PubMed ID: 1427766

DOI: 10.1007/bf00210738

PubMed ID: 1301948

Title: CRIM-positive mutations of acute intermittent porphyria in Finland.

PubMed ID: 1301948

DOI: 10.1002/humu.1380010508

PubMed ID: 8262523

Title: Detection of a high mutation frequency in exon 12 of the porphobilinogen deaminase gene in patients with acute intermittent porphyria.

PubMed ID: 8262523

DOI: 10.1007/bf00420949

PubMed ID: 8401516

Title: Acute intermittent porphyria caused by an arginine to histidine substitution (R26H) in the cofactor-binding cleft of porphobilinogen deaminase.

PubMed ID: 8401516

DOI: 10.1093/hmg/2.8.1315

PubMed ID: 8268934

Title: Two novel mutations of the porphobilinogen deaminase gene in acute intermittent porphyria.

PubMed ID: 8268934

DOI: 10.1093/hmg/2.10.1735

PubMed ID: 8270254

Title: Detection of eleven mutations causing acute intermittent porphyria using denaturing gradient gel electrophoresis.

PubMed ID: 8270254

DOI: 10.1007/bf00218912

PubMed ID: 8270256

Title: Two new mutations in the porphobilinogen deaminase gene and a screening method using PCR amplification of specific alleles.

PubMed ID: 8270256

DOI: 10.1007/bf00218914

PubMed ID: 8081367

Title: Identification of five novel mutations in the porphobilinogen deaminase gene.

PubMed ID: 8081367

DOI: 10.1093/hmg/3.5.809

PubMed ID: 7866402

Title: Molecular basis of acute intermittent porphyria: mutations and polymorphisms in the human hydroxymethylbilane synthase gene.

PubMed ID: 7866402

DOI: 10.1002/humu.1380040403

PubMed ID: 7962538

Title: Acute intermittent porphyria: identification and expression of exonic mutations in the hydroxymethylbilane synthase gene. An initiation codon missense mutation in the housekeeping transcript causes 'variant acute intermittent porphyria' with normal expression of the erythroid-specific enzyme.

PubMed ID: 7962538

DOI: 10.1172/jci117543

PubMed ID: 7757070

Title: Acute intermittent porphyria in Finland: 19 mutations in the porphobilinogen deaminase gene.

PubMed ID: 7757070

DOI: 10.1093/hmg/4.2.215

PubMed ID: 8825929

Title: Four mutations in the porphobilinogen deaminase gene in patients with acute intermittent porphyria.

PubMed ID: 8825929

DOI: 10.1136/jmg.32.12.979

PubMed ID: 9199558

Title: Molecular epidemiology and diagnosis of PBG deaminase gene defects in acute intermittent porphyria.

PubMed ID: 9199558

DOI: 10.1086/515455

PubMed ID: 9225970

Title: Genetic investigation of the porphobilinogen deaminase gene in Swedish acute intermittent porphyria families.

PubMed ID: 9225970

DOI: 10.1007/s004390050466

PubMed ID: 9654202

Title: Three splicing defects, an insertion, and two missense mutations responsible for acute intermittent porphyria.

PubMed ID: 9654202

DOI: 10.1007/s004390050737

PubMed ID: 9463797

Title: Identification of two novel mutations in the hydroxymethylbilane synthase gene in three patients from two unrelated families with acute intermittent porphyria.

PubMed ID: 9463797

DOI: 10.1159/000022777

PubMed ID: 10494093

Title: Identification and characterization of hydroxymethylbilane synthase mutations causing acute intermittent porphyria: evidence for an ancestral founder of the common G111R mutation.

PubMed ID: 10494093

DOI: 10.1002/(sici)1096-8628(19991008)86:4<366::aid-ajmg11>3.3.co;2-r

PubMed ID: 10453740

Title: Comparison of complementary and genomic DNA sequencing for the detection of mutations in the HMBS gene in British patients with acute intermittent porphyria: identification of 25 novel mutations.

PubMed ID: 10453740

DOI: 10.1007/s004390050995

PubMed ID: 10502788

Title: Acute intermittent porphyria: characterization of two novel mutations in the porphobilinogen deaminase gene, one amino acid deletion (453-455delAGC) and one splicing acceptor site mutation (IVS8-1G>T).

PubMed ID: 10502788

DOI: 10.1002/(sici)1098-1004(199910)14:4<355::aid-humu19>3.0.co;2-t

PubMed ID: 10657149

Title: New mutations of the hydroxymethylbilane synthase gene in German patients with acute intermittent porphyria.

PubMed ID: 10657149

DOI: 10.1006/mcpr.1999.0276

PubMed ID: 10602775

Title: Identification and expression of mutations in the hydroxymethylbilane synthase gene causing acute intermittent porphyria (AIP).

PubMed ID: 10602775

DOI: 10.1007/bf03401985

PubMed ID: 11399210

Title: Acute intermittent porphyria: novel missense mutations in the human hydroxymethylbilane synthase gene.

PubMed ID: 11399210

DOI: 10.1097/00125817-200009000-00004

PubMed ID: 11030413

Title: Porphobilinogen deaminase gene in African and Afro-Caribbean ethnic groups: mutations causing acute intermittent porphyria and specific intragenic polymorphisms.

PubMed ID: 11030413

DOI: 10.1007/s004390000323

PubMed ID: 10782018

Title: Identification of a prevalent nonsense mutation (W283X) and two novel mutations in the porphobilinogen deaminase gene of Swiss patients with acute intermittent porphyria.

PubMed ID: 10782018

DOI: 10.1159/000022924

PubMed ID: 11013452

Title: Identification and characterization of two novel mutations that produce acute intermittent porphyria: a 3-base deletion (841-843delGGA) and a missense mutation (T35M).

PubMed ID: 11013452

DOI: 10.1002/1098-1004(200010)16:4<373::aid-humu14>3.0.co;2-a

PubMed ID: 12406973

Title: Molecular and biochemical studies of acute intermittent porphyria in 196 patients and their families.

PubMed ID: 12406973

PubMed ID: 12372055

Title: Acute intermittent porphyria in Sweden. Molecular, functional and clinical consequences of some new mutations found in the porphobilinogen deaminase gene.

PubMed ID: 12372055

DOI: 10.1034/j.1399-0004.2002.620406.x

PubMed ID: 11857754

Title: Molecular study of the hydroxymethylbilane synthase gene (HMBS) among Polish patients with acute intermittent porphyria.

PubMed ID: 11857754

DOI: 10.1002/humu.9020

PubMed ID: 12773194

Title: Human porphobilinogen deaminase mutations in the investigation of the mechanism of dipyrromethane cofactor assembly and tetrapyrrole formation.

PubMed ID: 12773194

DOI: 10.1042/bst0310731

PubMed ID: 14757946

Title: Haplotype analysis of Norwegian and Swedish patients with acute intermittent porphyria (AIP): Extreme haplotype heterogeneity for the mutation R116W.

PubMed ID: 14757946

DOI: 10.1155/2003/384971

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: 14970743

Title: Homozygous acute intermittent porphyria in a 7-year-old boy with massive excretions of porphyrins and porphyrin precursors.

PubMed ID: 14970743

DOI: 10.1023/b:boli.0000016613.75677.05

PubMed ID: 15669678

Title: Mutation hotspots in the human porphobilinogen deaminase gene: recurrent mutations G111R and R173Q occurring at CpG motifs.

PubMed ID: 15669678

DOI: 10.1023/b:boli.0000042936.20691.ad

PubMed ID: 16211556

Title: Nine mutations including three novel mutations among Russian patients with acute intermittent porphyria.

PubMed ID: 16211556

DOI: 10.1002/humu.9381

PubMed ID: 18406650

Title: Characterization of two missense variants in the hydroxymethylbilane synthase gene in the Israeli population, which differ in their associations with acute intermittent porphyria.

PubMed ID: 18406650

DOI: 10.1016/j.ymgme.2008.03.001

PubMed ID: 19138865

Title: Correlation between biochemical findings, structural and enzymatic abnormalities in mutated HMBS identified in six Israeli families with acute intermittent porphyria.

PubMed ID: 19138865

DOI: 10.1016/j.bcmd.2008.11.001

PubMed ID: 19292878

Title: Acute intermittent porphyria--impact of mutations found in the hydroxymethylbilane synthase gene on biochemical and enzymatic protein properties.

PubMed ID: 19292878

DOI: 10.1111/j.1742-4658.2009.06946.x

PubMed ID: 23815679

Title: Conformational stability and activity analysis of two hydroxymethylbilane synthase mutants, K132N and V215E, with different phenotypic association with acute intermittent porphyria.

PubMed ID: 23815679

DOI: 10.1042/bsr20130045

PubMed ID: 25703257

Title: Hydroxymethylbilane synthase gene mutations and polymorphisms in Brazilian families with acute intermittent porphyria.

PubMed ID: 25703257

DOI: 10.1111/ahg.12102

PubMed ID: 25870942

Title: A novel mutation in the porphobilinogen deaminase gene in an extended Chinese family with acute intermittent porphyria.

PubMed ID: 25870942

DOI: 10.1016/j.gene.2015.04.027

PubMed ID: 29360981

Title: From a dominant to an oligogenic model of inheritance with environmental modifiers in acute intermittent porphyria.

PubMed ID: 29360981

DOI: 10.1093/hmg/ddy030

Sequence Information:

  • Length: 361
  • Mass: 39330
  • Checksum: 8F2F6F4150F1AD7E
  • Sequence:
  • MSGNGNAAAT AEENSPKMRV IRVGTRKSQL ARIQTDSVVA TLKASYPGLQ FEIIAMSTTG 
    DKILDTALSK IGEKSLFTKE LEHALEKNEV DLVVHSLKDL PTVLPPGFTI GAICKRENPH 
    DAVVFHPKFV GKTLETLPEK SVVGTSSLRR AAQLQRKFPH LEFRSIRGNL NTRLRKLDEQ 
    QEFSAIILAT AGLQRMGWHN RVGQILHPEE CMYAVGQGAL GVEVRAKDQD ILDLVGVLHD 
    PETLLRCIAE RAFLRHLEGG CSVPVAVHTA MKDGQLYLTG GVWSLDGSDS IQETMQATIH 
    VPAQHEDGPE DDPQLVGITA RNIPRGPQLA AQNLGISLAN LLLSKGAKNI LDVARQLNDA 
    H

Genular Protein ID: 1630448330

Symbol: A0A8I5KXV4_HUMAN

Name: N/A

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 16554811

Title: Human chromosome 11 DNA sequence and analysis including novel gene identification.

PubMed ID: 16554811

DOI: 10.1038/nature04632

Sequence Information:

  • Length: 306
  • Mass: 33499
  • Checksum: 3CF234BA58375C53
  • Sequence:
  • MSTTGDKILD TALSKIGEKS LFTKELEHAL EKNEVDLVVH SLKDLPTVLP PGFTIGAICK 
    RENPHDAVVF HPKFVGKTLE TLPEKSVVGT SSLRRAAQLQ RKFPHLEFRS IRGNLNTRLR 
    KLDEQQEFSA IILATAGLQR MGWHNRVGQI LHPEECMYAV GQGALGVEVR AKDQDILDLV 
    GVLHDPETLL RCIAERAFLR HLEGGCSVPV AVHTAMKDGQ LYLTGGVWSL DGSDSIQETM 
    QATIHVPAQH EDGPEDDPQL VGITARNIPR GPQLAAQNLG ISLANLLLSK GAKNILDVAR 
    QLNDAH

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. For the full schema, download it here.