Aliases for HMBS Gene
Aliases for HMBS Gene
External Ids for HMBS Gene
- HGNC: 4982
- Entrez Gene: 3145
- Ensembl: ENSG00000256269
- OMIM: 609806
- UniProtKB: P08397
Previous HGNC Symbols for HMBS Gene
- PBGD
- UPS
- PORC
Previous GeneCards Identifiers for HMBS Gene
- GC11P135563
- GC11P120467
- GC11P118989
- GC11P118493
- GC11P118460
- GC11P118955
- GC11P114895
Summaries for HMBS Gene
-
This gene encodes a member of the hydroxymethylbilane synthase superfamily. The encoded protein is the third enzyme of the heme biosynthetic pathway and catalyzes the head to tail condensation of four porphobilinogen molecules into the linear hydroxymethylbilane. Mutations in this gene are associated with the autosomal dominant disease acute intermittent porphyria. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
GeneCards Summary for HMBS Gene
HMBS (Hydroxymethylbilane Synthase) is a Protein Coding gene. Diseases associated with HMBS include Porphyria, Acute Intermittent and Porphyria. Among its related pathways are Porphyrin and chlorophyll metabolism and Metabolism. GO annotations related to this gene include hydroxymethylbilane synthase activity.
UniProtKB/Swiss-Prot for HMBS Gene
-
Tetrapolymerization of the monopyrrole PBG into the hydroxymethylbilane pre-uroporphyrinogen in several discrete steps.
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HMBS Gene
Genomics for HMBS Gene
Regulatory Elements for HMBS Gene
Enhancers for HMBS Gene
- Elite enhancer and/or Elite enhancer-gene association
Download GeneHancer data dump
Enhancers around HMBS on UCSC Golden Path with GeneCards custom track
- Transcription factor binding sites by QIAGEN in the HMBS gene promoter:
Regulatory Element Products
Genomic Location for HMBS Gene
- Chromosome:
- 11
- Start:
- 119,084,866 bp from pter
- End:
- 119,093,549 bp from pter
- Size:
- 8,684 bases
- Orientation:
- Plus strand
Genomic View for HMBS Gene
Genes around HMBS on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 11q23.3 by Ensembl
- 11q23.3 by Entrez Gene
- 11q23.3 by HGNC
HMBS Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for HMBS Gene
Proteins for HMBS Gene
-
Protein details for HMBS Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P08397-HEM3_HUMAN
- Recommended name:
- Porphobilinogen deaminase
- Protein Accession:
- P08397
- A8K2L0
- G3V1P4
- G5EA58
- P08396
- Q16012
Protein attributes for HMBS Gene
- Size:
- 361 amino acids
- Molecular mass:
- 39330 Da
- Cofactor:
- Name=dipyrromethane; Xref=ChEBI:CHEBI:60342;
- Quaternary structure:
- No Data Available
- Miscellaneous:
-
- The porphobilinogen subunits are added to the dipyrromethane group.
Protein Expression for HMBS Gene
Selected DME Specific Peptides for HMBS Gene
- P08397:
-
- RGNLNTR
- LEGGCSVP
- GTSSLRR
- TRLRKLDE
Post-translational modifications for HMBS Gene
Other Protein References for HMBS Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- EMD Millipore Complete listing of Mono and Polychlonal Antibodies for HMBS
-
Custom Antibody ServicesOriGene Antibodies for HMBS
- TA327175
- TA802728JM
- TA802728HM
- TA802728GM
- TA802728FM
- TA802728EM
- TA802728DM
- TA802728CM
- TA802728BM
- TA802728AM
- TA802690JM
- TA802690HM
- TA802690GM
- TA802690FM
- TA802690CM
- TA802690DM
- TA802690EM
- TA802690BM
- TA802690AM
- TA802669JM
- TA802669HM
- TA802669GM
- TA802669FM
- TA802669EM
- TA802669DM
- TA802669CM
- TA802669BM
- TA802669AM
- TA802523JM
- TA802523HM
- TA802523GM
- TA802523FM
- TA802523EM
- TA802523DM
- TA802523CM
- TA802523BM
- TA802523AM
- TA802521JM
- TA802521HM
- TA802521GM
- TA802521FM
- TA802521EM
- TA802521DM
- TA802521CM
- TA802521BM
- TA802521AM
- UM870041
- UM800041
- CF802728
- TA802728
- CF802690
- TA802690
- CF802669
- TA802669
- CF802523
- TA802523
- CF802521
- TA802521
- TA334952
- TA334951
- TA321079
- Novus Biologicals Antibodies for HMBS
-
Cloud-Clone Corp. Antibodies for HMBS
- Invitrogen Antibodies for HMBS
- antibodies-online Antibodies for HMBS: See all 68
- GeneTex HMBS antibody for HMBS
-
Santa Cruz Biotechnology (SCBT) Antibodies for HMBS
Protein Products
-
OriGene Purified Proteins for HMBS
- Search Origene for MassSpec and Protein Over-expression Lysates for HMBS
- Origene Custom Protein Services for HMBS
- ProSpec Recombinant Proteins for HMBS
-
Cloud-Clone Corp. Proteins for HMBS
- antibodies-online Proteins for HMBS: See all 10
- Search antibodies-online for peptides
- Search GeneTex for Proteins for HMBS
-
ProSci Proteins for HMBS
Domains & Families for HMBS Gene
Protein Domains for HMBS Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for HMBS Gene
Graphical View of Domain Structure for InterPro Entry
P08397- Family:
-
- Belongs to the HMBS family.
No data available for Gene Families for HMBS Gene
Function for HMBS Gene
Molecular function for HMBS Gene
- GENATLAS Biochemistry:
- hydroxymethylbilane synthase,cytosolic,catalyzing the polymerization of four PGB,third step of porphyrin biosynthesis
- UniProtKB/Swiss-Prot BiophysicochemicalProperties:
- Kinetic parameters: KM=48 uM for porphobilinogen {ECO:0000269 PubMed:23815679}; Vmax=1261 nmol/h/mg enzyme (at 37 degrees Celsius) {ECO:0000269 PubMed:23815679}; Temperature dependence: Displays high thermal stability. The half-denaturation temperature (Tm) is about 74 degrees Celsius. {ECO:0000269 PubMed:23815679};
- UniProtKB/Swiss-Prot CatalyticActivity:
- 4 porphobilinogen + H(2)O = hydroxymethylbilane + 4 NH(3).
- UniProtKB/Swiss-Prot Function:
- Tetrapolymerization of the monopyrrole PBG into the hydroxymethylbilane pre-uroporphyrinogen in several discrete steps.
Enzyme Numbers (IUBMB) for HMBS Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0004418 | hydroxymethylbilane synthase activity | TAS | -- |
| GO:0016740 | transferase activity | IEA | -- |
Phenotypes for HMBS Gene
- MGI mutant phenotypes for HMBS:
- inferred from 3 alleles
- GenomeRNAi human phenotypes for HMBS:
-
- Increased viability
- Increased vaccinia virus (VACV) infection
- Decreased viability
- shRNA abundance <= 50%
- Decreased viability ratio
- Dynamic nuclei (hole, folded or small irregular)
- Decreased NF-kappaB reporter expression
- Decreased viability after Maraba virus infection
- Effect on mitosis
- Decreased shRNA abundance
- Synthetic lethal with vaccinia virus (VACV) infection
Animal Models for HMBS Gene
- MGI Knock Outs for HMBS:
-
- Hmbs tm1Uam
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
-
ViGene Biosciences lentiviral particle packaged cDNA for HMBS gene
-
ViGene Biosciences ready-to-package AAV shRNAs for HMBS gene
- Search ViGene Biosciences for HMBS
CRISPR Products
-
OriGene CRISPR knockouts for HMBS
-
Santa Cruz Biotechnology (SCBT) CRISPR for HMBS
- GenScript: Design CRISPR guide RNA sequences for HMBS
miRNA for HMBS Gene
- miRTarBase miRNAs that target HMBS
miRNA Products
- Search ViGene Biosciences for HMBS
Inhibitory RNA Products
- Origene RNAi, siRNA, and shRNA products in human, mouse, rat for HMBS
- Browse OriGene Inhibitory RNA Products For HMBS
-
ViGene Biosciences ready-to-package AAV shRNAs for HMBS gene
Clone Products
- Sino Biological Human cDNA Clone for HMBS
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
Cell Line Products
-
Horizon Cell Lines for HMBS
-
ViGene Biosciences adenoviral particle packaged cDNA for HMBS gene
-
ViGene Biosciences lentiviral particle packaged cDNA for HMBS gene
-
ViGene Biosciences ready-to-package AAV shRNAs for HMBS gene
Flow Cytometry Products
- eBioscience FlowRNA Probe Sets (VA1-13104 VA4-11495 VA6-13196) for HMBS
No data available for Transcription Factor Targets and HOMER Transcription for HMBS Gene
Localization for HMBS Gene
Subcellular locations from UniProtKB/Swiss-Prot for HMBS Gene
- Cytoplasm.
| Compartment | Confidence |
|---|---|
| cytosol | 5 |
| mitochondrion | 2 |
| plasma membrane | 1 |
| extracellular | 1 |
| nucleus | 1 |
| endoplasmic reticulum | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005737 | cytoplasm | IBA,IEA | -- |
| GO:0005829 | cytosol | TAS | -- |
Pathways & Interactions for HMBS Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Porphyrin and chlorophyll metabolism | ||
| 2 | Metabolism |
.37
|
|
Pathways by source for HMBS Gene
3 BioSystems pathways for HMBS Gene
3 Reactome pathways for HMBS Gene
2 KEGG pathways for HMBS Gene
UniProtKB/Swiss-Prot P08397-HEM3_HUMAN
- Pathway: Porphyrin-containing compound metabolism; protoporphyrin-IX biosynthesis; coproporphyrinogen-III from 5-aminolevulinate: step 2/4.
Interacting Proteins for HMBS Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006779 | porphyrin-containing compound biosynthetic process | IEA | -- |
| GO:0006782 | protoporphyrinogen IX biosynthetic process | IEA | -- |
| GO:0006783 | heme biosynthetic process | TAS | -- |
| GO:0018160 | peptidyl-pyrromethane cofactor linkage | IEA | -- |
| GO:0033014 | tetrapyrrole biosynthetic process | IEA | -- |
No data available for SIGNOR curated interactions for HMBS Gene
Drugs & Compounds for HMBS Gene
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| hydroxymethylbilane |
|
73023-76-4 | ||||
| Ammonia |
|
7664-41-7 |
|
|||
| Formyl-CoA |
|
13131-49-2 |
|
Transcripts for HMBS Gene
mRNA/cDNA for HMBS Gene
- (9) REFSEQ mRNAs :
- (12) Additional mRNA sequences :
- (473) Selected AceView cDNA sequences:
- (26) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for HMBS Gene
CRISPR Products
-
OriGene CRISPR knockouts for HMBS
-
Santa Cruz Biotechnology (SCBT) CRISPR for HMBS
- GenScript: Design CRISPR guide RNA sequences for HMBS
miRNA Products
- Search ViGene Biosciences for HMBS
Inhibitory RNA Products
- Origene RNAi, siRNA, and shRNA products in human, mouse, rat for HMBS
- Browse OriGene Inhibitory RNA Products For HMBS
-
ViGene Biosciences ready-to-package AAV shRNAs for HMBS gene
Clone Products
- Sino Biological Human cDNA Clone for HMBS
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
Flow Cytometry Products
- eBioscience FlowRNA Probe Sets (VA1-13104 VA4-11495 VA6-13196) for HMBS
Expression for HMBS Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Blood (Hematopoietic System)
- Erythroblasts Hematopoietic Bone Marrow
-
Heart (Cardiovascular System)
- Cardiac Crescent Cells Cardiac Crescent
- Neural Tube (Nervous System)
- Bone (Muscoskeletal System)
- Liver (Hepatobiliary System)
-
Lymph (Hematopoietic System)
mRNA differential expression in normal tissues according to GTEx for HMBS Gene
This gene is overexpressed in Whole Blood (x5.1).
This gene is overexpressed in Fetal Liver (25.0).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for HMBS Gene
NURSA nuclear receptor signaling pathways regulating expression of HMBS Gene:
HMBSSOURCE GeneReport for Unigene cluster for HMBS Gene:
Hs.82609mRNA Expression by UniProt/SwissProt for HMBS Gene:
P08397-HEM3_HUMAN
Tissue specificity:
Isoform 1 is ubiquitously expressed. Isoform 2 is found only in erythroid cells.
Evidence on tissue expression from TISSUES for HMBS Gene
- Nervous system(4.6)
- Lung(4.5)
- Liver(4.4)
- Intestine(4.3)
- Blood(3.1)
Phenotype-based relationships between genes and organs from Gene ORGANizer for HMBS Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- cardiovascular
- digestive
- integumentary
- nervous
- reproductive
- respiratory
- skeletal muscle
- urinary
Organs:
Head and neck:
- brain
- ear
- head
Thorax:
- esophagus
- heart
- heart valve
- lung
Abdomen:
- intestine
- kidney
- large intestine
- liver
- small intestine
- stomach
Pelvis:
- prostate
- rectum
- urinary bladder
General:
- blood vessel
- peripheral nerve
- peripheral nervous system
- skin
- spinal cord
- sweat gland
Primer Products
-
OriGene qPCR primer pairs for HMBS
-
OriGene qPCR primer pairs and template standards for HMBS
Orthologs for HMBS Gene
This gene was present in the common ancestor of eukaryotes.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | HMBS 35 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | HMBS 34 35 |
|
||
| cow (Bos Taurus) |
Mammalia | HMBS 34 35 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Hmbs 34 |
|
||
| mouse (Mus musculus) |
Mammalia | Hmbs 34 16 35 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | HMBS 35 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | HMBS 35 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | HMBS 34 35 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | HMBS 35 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | hmbs 34 |
|
||
| Str.4847 34 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.32592 34 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | hmbsb 34 35 |
|
||
| hmbsa 35 |
|
OneToMany | |||
| zgc64128 34 |
|
||||
| fruit fly (Drosophila melanogaster) |
Insecta | l(3)02640 34 35 |
|
||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP011080 34 |
|
||
| A. gosspyii yeast (Ashbya gossypii) |
Saccharomycetes | AGOS_ABL107C 34 |
|
||
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | HEM3 34 35 37 |
|
||
| K. lactis yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0C15147g 34 |
|
||
| thale cress (Arabidopsis thaliana) |
eudicotyledons | HEMC 34 |
|
||
| rice (Oryza sativa) |
Liliopsida | Os02g0168800 34 |
|
||
| sea squirt (Ciona savignyi) |
Ascidiacea | CSA.10281 35 |
|
OneToOne | |
| bread mold (Neurospora crassa) |
Ascomycetes | NCU10292 34 |
|
||
| fission yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | hem3 34 |
|
||
| sea squirt (Ciona intestinalis) |
Ascidiacea | Cin.12172 34 |
|
- Species where no ortholog for HMBS was found in the sources mined by GeneCards:
-
- Actinobacteria (Mycobacterium tuberculosis)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- corn (Zea mays)
- E. coli (Escherichia coli)
- filamentous fungi (Aspergillus nidulans)
- Firmicute bacteria (Streptococcus pneumoniae)
- green algae (Chlamydomonas reinhardtii)
- honey bee (Apis mellifera)
- loblloly pine (Pinus taeda)
- malaria parasite (Plasmodium falciparum)
- medicago trunc (Medicago Truncatula)
- moss (Physcomitrella patens)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- rainbow trout (Oncorhynchus mykiss)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea urchin (Strongylocentrotus purpuratus)
- sorghum (Sorghum bicolor)
- soybean (Glycine max)
- stem rust fungus (Puccinia graminis)
- sugarcane (Saccharum officinarum)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- wheat (Triticum aestivum)
- worm (Caenorhabditis elegans)
Paralogs for HMBS Gene
(1) SIMAP similar genes for HMBS Gene using alignment to 11 proteins:
No data available for Paralogs for HMBS Gene
Variants for HMBS Gene
| SNP ID | Clin | Chr 11 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs118204094 | Pathogenic, Acute intermittent porphyria (AIP) [MIM:176000] | 119,089,991(+) | CCAGG(C/T)GGGAA | reference, missense | |
| rs118204095 | Pathogenic, Acute intermittent porphyria (AIP) [MIM:176000] | 119,091,414(+) | ACAGC(A/G/T)GGGAA | reference, missense | |
| rs118204096 | Pathogenic, Acute intermittent porphyria (AIP) [MIM:176000] | 119,091,432(+) | CACCC(A/G)GCTTC | reference, missense | |
| rs118204098 | Pathogenic, Acute intermittent porphyria (AIP) [MIM:176000] | 119,090,213(+) | CCTGC(A/G)AAGAG | reference, missense | |
| rs118204099 | Pathogenic, Acute intermittent porphyria (AIP) [MIM:176000] | 119,092,486(+) | TCTGC(G/T)TCGCT | intron-variant, reference, missense |
Residual Variation Intolerance Score:
38% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
0.79;
16.67% of all genes are more intolerant (likely to be disease-causing)
Relevant External Links for HMBS Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for HMBS Gene
Disorders for HMBS Gene
(15) MalaCards diseases for HMBS Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| porphyria, acute intermittent |
|
|
| porphyria |
|
|
| acute porphyria |
|
|
| autosomal dominant disease |
|
|
| coproporphyria |
|
Search HMBS in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
HEM3_HUMAN- Acute intermittent porphyria (AIP) [MIM:176000]: A form of porphyria. Porphyrias are inherited defects in the biosynthesis of heme, resulting in the accumulation and increased excretion of porphyrins or porphyrin precursors. They are classified as erythropoietic or hepatic, depending on whether the enzyme deficiency occurs in red blood cells or in the liver. AIP is an autosomal dominant form of hepatic porphyria characterized by attacks of gastrointestinal disturbances, abdominal colic, with neurological dysfunctions, hypertension, tachycardia and peripheral neuropathy. Most attacks are precipitated by drugs, alcohol, caloric deprivation, infections, or endocrine factors. {ECO:0000269 PubMed:10453740, ECO:0000269 PubMed:10494093, ECO:0000269 PubMed:10502788, ECO:0000269 PubMed:10602775, ECO:0000269 PubMed:10657149, ECO:0000269 PubMed:10782018, ECO:0000269 PubMed:11013452, ECO:0000269 PubMed:11030413, ECO:0000269 PubMed:11399210, ECO:0000269 PubMed:11857754, ECO:0000269 PubMed:12372055, ECO:0000269 PubMed:12406973, ECO:0000269 PubMed:12773194, ECO:0000269 PubMed:1301948, ECO:0000269 PubMed:1427766, ECO:0000269 PubMed:14669009, ECO:0000269 PubMed:14757946, ECO:0000269 PubMed:1496994, ECO:0000269 PubMed:14970743, ECO:0000269 PubMed:15669678, ECO:0000269 PubMed:16211556, ECO:0000269 PubMed:1714233, ECO:0000269 PubMed:18406650, ECO:0000269 PubMed:19138865, ECO:0000269 PubMed:19292878, ECO:0000269 PubMed:2243128, ECO:0000269 PubMed:23815679, ECO:0000269 PubMed:25703257, ECO:0000269 PubMed:25870942, ECO:0000269 PubMed:7757070, ECO:0000269 PubMed:7962538, ECO:0000269 PubMed:8081367, ECO:0000269 PubMed:8262523, ECO:0000269 PubMed:8268934, ECO:0000269 PubMed:8270254, ECO:0000269 PubMed:8270256, ECO:0000269 PubMed:8401516, ECO:0000269 PubMed:8825929, ECO:0000269 PubMed:9199558, ECO:0000269 PubMed:9225970, ECO:0000269 PubMed:9463797, ECO:0000269 PubMed:9654202, ECO:0000269 Ref.46}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Genatlas disease for HMBS Gene
porphyria,acute,intermittent (AIP),including an erythroid form and a non-erythroid variant
Relevant External Links for HMBS
Publications for HMBS Gene
- Structure of human porphobilinogen deaminase at 2.8 A: the molecular basis of acute intermittent porphyria. (PMID: 19207107) Gill R. … Shoolingin-Jordan P.M. (Biochem. J. 2009) 3 4 22 64
- Acute intermittent porphyria--impact of mutations found in the hydroxymethylbilane synthase gene on biochemical and enzymatic protein properties. (PMID: 19292878) Ulbrichova D. … Martasek P. (FEBS J. 2009) 3 4 22 64
- Correlation between biochemical findings, structural and enzymatic abnormalities in mutated HMBS identified in six Israeli families with acute intermittent porphyria. (PMID: 19138865) Ulbrichova D. … Schoenfeld N. (Blood Cells Mol. Dis. 2009) 3 4 22 64
- Structural insight into acute intermittent porphyria. (PMID: 18936296) Song G. … Liu Z.J. (FASEB J. 2009) 3 4 22 64
- HMBS mutations in Chinese patients with acute intermittent porphyria. (PMID: 18627369) Yang C.C. … Lee M.J. (Ann. Hum. Genet. 2008) 3 22 46 64
Products for HMBS Gene
- Browse R&D Systems for Antibodies
- Browse R&D Systems for Human Recombinant Proteins
- Browse R&D Systems for biochemical assays
- Browse Primary Antibodies
- Browse Proteins and Enzymes
- Browse ELISAs
- Browse Activity Assays
- Browse cDNA Clones
- Browse Cell Culture Products
- Browse Cell Selection and Detection Kits
- Browse DNA Damage and Repair Kits
- Browse ELISpot/FluoroSpot Kits and Development Modules
- Browse Flow Cytometry Kits
- Browse Immunoprecipitation Assays
- Browse Luminex Assays
- Browse Peptides
- Browse Proteome Profiler Antibody Arrays
- Browse Small Molecules
- Custom Antibody ServicesOriGene Antibodies for HMBS
- TA321079
- TA334951
- TA334952
- TA802521
- CF802521
- TA802523
- CF802523
- TA802669
- CF802669
- TA802690
- CF802690
- TA802728
- CF802728
- UM800041
- UM870041
- TA802521AM
- TA802521BM
- TA802521CM
- TA802521DM
- TA802521EM
- TA802521FM
- TA802521GM
- TA802521HM
- TA802521JM
- TA802523AM
- TA802523BM
- TA802523CM
- TA802523DM
- TA802523EM
- TA802523FM
- TA802523GM
- TA802523HM
- TA802523JM
- TA802669AM
- TA802669BM
- TA802669CM
- TA802669DM
- TA802669EM
- TA802669FM
- TA802669GM
- TA802669HM
- TA802669JM
- TA802690AM
- TA802690BM
- TA802690CM
- TA802690DM
- TA802690EM
- TA802690FM
- TA802690GM
- TA802690HM
- TA802690JM
- TA802728AM
- TA802728BM
- TA802728CM
- TA802728DM
- TA802728EM
- TA802728FM
- TA802728GM
- TA802728HM
- TA802728JM
- TA327175
- Browse OriGene ELISA Kits
- Custom Assay Services
- OriGene Purified Proteins for HMBS
- Search Origene for MassSpec and Protein Over-expression Lysates for HMBS
- Origene Custom Protein Services for HMBS
- Origene shRNA, siRNA, and RNAi products in human, mouse, rat for HMBS
- Browse OriGene Inhibitory RNA Products For HMBS
- OriGene qPCR primer pairs and template standards for HMBS
- OriGene qPCR primer pairs for HMBS
- OriGene CRISPR knockouts for HMBS
- OriGene ORF clones in human for HMBS
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For HMBS
- GenScript: Next-day shipping cDNA ORF clone for HMBS in any vector
- GenScript Custom Purified and Recombinant Proteins Services for HMBS
- GenScript Custom Assay Services for HMBS
- GenScript Custom overexpressing Cell Line Services for HMBS
- GenScript: Design CRISPR guide RNA sequences for HMBS
- Design optimal peptide antigens
- CloneReady with Over 120,000 Genes
- Gene Synthesis: Any Gene in Any Vector
- Vector-based siRNA and miRNA, Ready for Transfection
- Gene Mutant Library, Variants up to 10^11
- Plasmid Preparation
- GenScript Custom Peptide Services for HMBS
- Sino Biological Human cDNA Clone for HMBS
- Browse Sino Biological Cell Lysates
- Browse Sino Biological Proteins
- Sino Biological Antibodies
- Sino Biological ELISA Kits and Pair Sets
- Sino Biological Cell Lysates
- Sino Biological qPCR Primers
- Sino Biological CRO Services for Proteins, Antibodies and Genes
- Sino Biological Transfection Reagents
- Novus Biologicals Antibodies for HMBS
- Novus Biologicals proteins and lysates for HMBS
- Novus Biologicals
- Novus Biologicals Tissue Microarrays
- ProSpec Recombinant Proteins for HMBS
- Cloud-Clone Corp. Antibodies for HMBS
- Cloud-Clone Corp. Proteins for HMBS
- Cloud-Clone Corp Assay Kits for HMBS
- antibodies-online Antibodies for HMBS: See all 68
- antibodies-online Kits for HMBS: See all 3
- antibodies-online Proteins for HMBS: See all 10
- Search antibodies-online for peptides
- GeneTex HMBS antibody for HMBS
- Search GeneTex for Proteins for HMBS
- ViGene Biosciences adenoviral particle packaged cDNA for HMBS gene
- ViGene Biosciences lentiviral particle packaged cDNA for HMBS gene
- ViGene Biosciences ready-to-package AAV shRNAs for HMBS gene
- Search ViGene Biosciences for HMBS
- Santa Cruz Biotechnology (SCBT) Antibodies for HMBS
- Search Santa Cruz Biotechnology (SCBT) for HMBS siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for HMBS
- Search for HMBS Antibodies at ProSci
- Custom Antibody Services
- ProSci Proteins for HMBS
- Horizon Cell Lines for HMBS
- Cyagen custom Knockout/knockin (KOKI) mouse models for HMBS
- VectorBuilder custom plasmid, inducible vectors for HMBS
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for HMBS
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Sources for HMBS Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) RNAdb
- (29) ASD
- (30) ECgene
- (31) GeneAnnot
- (32) CGAP SAGE
- (33) SOURCE
- (34) HomoloGene
- (35) PanEnsembl
- (36) euGenes
- (37) SGD
- (38) FlyBase
- (39) WormBase
- (40) Pseudogene
- (41) DGV
- (42) dbSNP
- (43) GenAtlas
- (44) GeneTests
- (45) HGMD
- (46) GAD
- (47) LSDB
- (48) BGMUT
- (49) HuGE
- (50) eBioscience
- (51) Atlas
- (52) Cell Signaling Technology
- (53) GenBank
- (54) H-invDB
- (55) HORDE
- (56) HUGE
- (57) IMGT
- (58) Leiden
- (59) MILLIPORE
- (60) miRBase
- (61) DME
- (62) NCBI
- (63) OriGene
- (64) PubMed
- (65) R&D Systems
- (66) TGDB
- (67) Tocris
- (68) Abcam
- (69) Novus
- (70) ProSpec
- (71) Sino Biological
- (72) GenScript
- (73) Qiagen
- (74) Cloud-Clone Corp.
- (75) Enzo Life Sciences
- (76) OCA
- (77) Proteopedia
- (78) MOPED
- (79) SPIRE
- (80) neXtProt
- (81) Reactome
- (82) GeneGo (Thomson Reuters)
- (83) fRNAdb
- (84) DISEASES
- (85) SIMAP
- (86) GenomeRNAi
- (87) LifeMap
- (88) miRTarBase
- (89) MalaCards
- (90) Invitrogen
- (91) BitterDB
- (92) Vector BioLabs
- (93) ESI-BIO
- (94) RefSeq
- (95) BioSystems
- (96) MaxQB
- (97) IUPHAR
- (98) BioGPS
- (99) Illumina
- (100) COMPARTMENTS
- (101) HOMER
- (102) PaxDb
- (103) ApexBio
- (104) Addgene
- (105) antibodies-online
- (106) CYP
- (107) NONCODE
- (108) SwitchGear Genomics
- (109) TreeFam
- (110) PathCards
- (111) GeneReviews
- (112) GeneTex
- (113) Taconic Biosciences
- (114) GTEx
- (115) ProteomicsDB
- (116) SCBT
- (117) DGIdb
- (118) ClinicalTrials
- (119) FDA Approved Drugs
- (120) RVIS
- (121) SIGNOR
- (122) diseasecard
- (123) NIH Rare Diseases
- (124) Orphanet
- (125) UMLS
- (126) GTR
- (127) Disease Ontology
- (128) Genetics Home Reference
- (129) MeSH
- (130) MedlinePlus
- (131) CDC
- (132) NINDS
- (133) NCBI Bookshelf
- (134) ClinVar
- (135) Gene Damage Index
- (136) ViGene Biosciences
- (137) HPO
- (138) UDN
- (139) VISTA
- (140) FANTOM5
- (141) ENCODE
- (142) ProSci
- (143) Horizon
- (144) NURSA
- (145) IID
- (146) Cyagen
- (147) VectorBuilder
- (148) SNPedia
- (149) BRCA Exchange
- (150) St John's Lab
- (151) CIViC
- (152) ProteoGenix
- (153) dbSUPER
- (154) TISSUES
- (155) Gene ORGANizer