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Aliases for HMBS Gene

Aliases for HMBS Gene

  • Hydroxymethylbilane Synthase 2 3 4 5
  • Porphyria, Acute; Chester Type 2 3
  • Pre-Uroporphyrinogen Synthase 3 4
  • Uroporphyrinogen I Synthase 2 3
  • Porphobilinogen Deaminase 2 3
  • EC 2.5.1.61 4 61
  • PBG-D 3 4
  • PBGD 3 4
  • UPS 3 4
  • Uroporphyrinogen I Synthetase 3
  • PORC 3

External Ids for HMBS Gene

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

Entrez Gene Summary 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.

Gene Wiki entry for HMBS Gene

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
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH11G119087 1.5 Ensembl ENCODE dbSUPER 18.7 +3.5 3494 2.5 HDGF PKNOX1 CREB3L1 ARNT SIN3A ZNF766 KLF13 JUNB REST ZNF592 VPS11 HMBS GC11M119097
GH11G118906 2.1 FANTOM5 Ensembl ENCODE dbSUPER 12.4 -166.1 -166074 24.6 MLX CREB3L1 ZFP64 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3 NFYC BCL9L CCDC84 CXCR5 DPAGT1 HMBS ENSG00000222529 FOXR1 C2CD2L ENSG00000254909 RNF26
GH11G119084 1.4 ENCODE dbSUPER 18.5 +0.5 463 2.2 HDGF PKNOX1 CREB3L1 ARNT AGO1 WRNIP1 ARID4B SIN3A DMAP1 ZNF2 VPS11 HMBS GC11M119097
GH11G119090 1.7 Ensembl ENCODE dbSUPER 12.2 +8.8 8806 5.9 CREB3L1 AGO1 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3 NFYC TBX21 HINFP ARCN1 RNF26 ENSG00000254909 C2CD2L BCL9L RPL23AP64 UBE4A RPS25 IFT46
GH11G119066 1.1 ENCODE 16.8 -17.3 -17302 2.0 HDGF PKNOX1 MLX CREB3L1 ARNT ZFP64 ARID4B SIN3A DMAP1 YY1 VPS11 HMBS H2AFX C2CD2L DPAGT1 SLC37A4 RPS25 TRAPPC4 HINFP NLRX1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around HMBS on UCSC Golden Path with GeneCards custom track

Promoters for HMBS Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000045721 434 1001 HDGF PKNOX1 CREB3L1 ARNT AGO1 WRNIP1 ARID4B SIN3A DMAP1 ZNF2

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:
HMBS Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HMBS Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene 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
    Secondary Accessions:
    • 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.

    Three dimensional structures from OCA and Proteopedia for HMBS Gene

    Alternative splice isoforms for HMBS Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for HMBS Gene

Selected DME Specific Peptides for HMBS Gene

P08397:
  • RGNLNTR
  • LEGGCSVP
  • GTSSLRR
  • TRLRKLDE

Post-translational modifications for HMBS Gene

  • Ubiquitination at posLast=227227
  • Modification sites at PhosphoSitePlus

Domains & Families for HMBS Gene

Graphical View of Domain Structure for InterPro Entry

P08397

UniProtKB/Swiss-Prot:

HEM3_HUMAN :
  • Belongs to the HMBS family.
Family:
  • Belongs to the HMBS family.
genes like me logo Genes that share domains with HMBS: view

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

Gene Ontology (GO) - Molecular Function for HMBS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004418 hydroxymethylbilane synthase activity TAS --
GO:0016740 transferase activity IEA --
genes like me logo Genes that share ontologies with HMBS: view
genes like me logo Genes that share phenotypes with HMBS: view

Human Phenotype Ontology for HMBS Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for HMBS Gene

MGI Knock Outs for HMBS:

Animal Model Products

CRISPR Products

miRNA for HMBS Gene

miRTarBase miRNAs that target HMBS

Inhibitory RNA Products

Flow Cytometry Products

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.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for HMBS gene
Compartment Confidence
cytosol 5
mitochondrion 2
plasma membrane 1
extracellular 1
nucleus 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for HMBS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA,IEA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with HMBS: view

Pathways & Interactions for HMBS Gene

genes like me logo Genes that share pathways with HMBS: view

Pathways by source 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.

Gene Ontology (GO) - Biological Process 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 --
genes like me logo Genes that share ontologies with HMBS: view

No data available for SIGNOR curated interactions for HMBS Gene

Drugs & Compounds for HMBS Gene

(21) Drugs for HMBS Gene - From: DGIdb, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Water Approved Pharma 0
Porphobilinogen Experimental Pharma 0
RAAV5-PBGD Pharma 0
heme Pharma Agonist 0

(19) Additional Compounds for HMBS Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
hydroxymethylbilane
  • 3,8,13,18-Tetrakis(carboxymethyl)-19-(hydroxymethyl)bilane-2,7,12,17-tetrapropanoate
  • 3,8,13,18-Tetrakis(carboxymethyl)-19-(hydroxymethyl)bilane-2,7,12,17-tetrapropanoic acid
  • 3,8,13,18-Tetrakis(carboxymethyl)-5,10,15,22,23,24-hexahydro-19-(hydroxymethyl)-21H-Biline-2,7,12,17-tetrapropanoate
  • 3,8,13,18-Tetrakis(carboxymethyl)-5,10,15,22,23,24-hexahydro-19-(hydroxymethyl)-21H-Biline-2,7,12,17-tetrapropanoic acid
  • 3-[2-[[4-(2-Carboxyethyl)-5-[[4-(2-carboxyethyl)-5-[[4-(2-carboxyethyl)-3-(carboxymethyl)-1H-pyrrol-2-yl]methyl]-3-(carboxymethyl)-1H-pyrrol-2-yl]methyl]-3-(carboxymethyl)-1H-pyrrol-2-yl]methyl]-4-(carboxymethyl)-5-(hydroxymethyl)-1H-pyrrol-3-yl]propanoate
73023-76-4
Ammonia
  • Ammonia anhydrous
  • Ammonia inhalant
  • Ammonia solution strong [usan]
  • Ammonia water
  • Ammoniak
7664-41-7
Formyl-CoA
  • Formyl coenzyme A
13131-49-2
genes like me logo Genes that share compounds with HMBS: view

Transcripts for HMBS Gene

Unigene Clusters for HMBS Gene

Hydroxymethylbilane synthase:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for HMBS Gene

No ASD Table

Relevant External Links for HMBS Gene

GeneLoc Exon Structure for
HMBS
ECgene alternative splicing isoforms for
HMBS

Expression for HMBS Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for HMBS Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for HMBS Gene

This gene is overexpressed in Whole Blood (x5.1).

Protein differential expression in normal tissues from HIPED for HMBS Gene

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



Protein tissue co-expression partners for HMBS Gene

NURSA nuclear receptor signaling pathways regulating expression of HMBS Gene:

HMBS

SOURCE GeneReport for Unigene cluster for HMBS Gene:

Hs.82609

mRNA 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
genes like me logo Genes that share expression patterns with HMBS: view

Primer Products

Orthologs for HMBS Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for HMBS Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia HMBS 35
  • 100 (a)
OneToOne
dog
(Canis familiaris)
Mammalia HMBS 34 35
  • 90.4 (n)
cow
(Bos Taurus)
Mammalia HMBS 34 35
  • 90.3 (n)
rat
(Rattus norvegicus)
Mammalia Hmbs 34
  • 87.74 (n)
mouse
(Mus musculus)
Mammalia Hmbs 34 16 35
  • 87.37 (n)
oppossum
(Monodelphis domestica)
Mammalia HMBS 35
  • 85 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia HMBS 35
  • 77 (a)
OneToOne
chicken
(Gallus gallus)
Aves HMBS 34 35
  • 70.79 (n)
lizard
(Anolis carolinensis)
Reptilia HMBS 35
  • 72 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia hmbs 34
  • 67.82 (n)
Str.4847 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.32592 34
zebrafish
(Danio rerio)
Actinopterygii hmbsb 34 35
  • 67.83 (n)
hmbsa 35
  • 66 (a)
OneToMany
zgc64128 34
fruit fly
(Drosophila melanogaster)
Insecta l(3)02640 34 35
  • 56.29 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011080 34
  • 56.2 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ABL107C 34
  • 51.68 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes HEM3 34 35 37
  • 51.03 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C15147g 34
  • 48.21 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons HEMC 34
  • 45.4 (n)
rice
(Oryza sativa)
Liliopsida Os02g0168800 34
  • 46.53 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10281 35
  • 55 (a)
OneToOne
bread mold
(Neurospora crassa)
Ascomycetes NCU10292 34
  • 51.8 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes hem3 34
  • 48.75 (n)
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)

Evolution for HMBS Gene

ENSEMBL:
Gene Tree for HMBS (if available)
TreeFam:
Gene Tree for HMBS (if available)

Paralogs for HMBS Gene

genes like me logo Genes that share paralogs with HMBS: view

No data available for Paralogs for HMBS Gene

Variants for HMBS Gene

Sequence variations from dbSNP and Humsavar 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

Variation tolerance for HMBS Gene

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

Human Gene Mutation Database (HGMD)
HMBS
SNPedia medical, phenotypic, and genealogical associations of SNPs for
HMBS

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

MalaCards: The human disease database

(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 intermittent, nonerythroid variant
porphyria
  • disorder of porphyrin and hem metabolism
acute porphyria
  • hepatic porphyria
autosomal dominant disease
  • autosomal dominant disorder
coproporphyria
  • harderoporphyria
- elite association - COSMIC cancer census association via MalaCards
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

Genetic Association Database (GAD)
HMBS
Human Genome Epidemiology (HuGE) Navigator
HMBS
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
HMBS
genes like me logo Genes that share disorders with HMBS: view

Publications for HMBS Gene

  1. 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
  2. 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
  3. 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
  4. Structural insight into acute intermittent porphyria. (PMID: 18936296) Song G. … Liu Z.J. (FASEB J. 2009) 3 4 22 64
  5. 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

Sources for HMBS Gene

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