Entity Details

Primary name HMBS
Entity type gene
Source Source Link

Details

PrimaryID3145
RefseqGeneNG_008093
SymbolHMBS
Namehydroxymethylbilane synthase
Chromosome11
Location11q23.3
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1992-10-06
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsHEM3_HUMAN

GO terms

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GOName
GO:0004418 hydroxymethylbilane synthase activity
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0006782 protoporphyrinogen IX biosynthetic process
GO:0006783 heme biosynthetic process
GO:0018160 peptidyl-pyrromethane cofactor linkage

Diseases

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Disease IDSourceNameDescription
176000 OMIMAcute intermittent porphyria (AIP)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. The disease is caused by variants affecting the gene represented in this entry.