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Gene: HMBS (hydroxymethylbilane synthase) Homo sapiens
Symbol: HMBS
Name: hydroxymethylbilane synthase
Description: Exhibits hydroxymethylbilane synthase activity. Predicted to be involved in heme biosynthetic process. Predicted to localize to the cytoplasm. Implicated in acute intermittent porphyria and sickle cell anemia. Biomarker of prostate carcinoma; seminoma; and urinary bladder cancer.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: Chester type; PBG-D; PBGD; PORC; porphobilinogen deaminase; porphyria, acute; porphyria, acute, Chester type; porphyria, acute; Chester type; pre-uroporphyrinogen synthase; UPS; uroporphyrinogen I synthase; uroporphyrinogen I synthetase
Mus musculus (house mouse) : Hmbs (hydroxymethylbilane synthase)  MGI  Alliance
Rattus norvegicus (Norway rat) : Hmbs (hydroxymethylbilane synthase)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Hmbs (hydroxymethylbilane synthase)
Pan paniscus (bonobo/pygmy chimpanzee) : HMBS (hydroxymethylbilane synthase)
Canis lupus familiaris (dog) : HMBS (hydroxymethylbilane synthase)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Hmbs (hydroxymethylbilane synthase)
Sus scrofa (pig) : HMBS (hydroxymethylbilane synthase)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Human AssemblyChrPosition (strand)SourceGenome Browsers
GRCh3811119,084,864 - 119,093,549 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh3711118,955,587 - 118,964,259 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3611118,460,797 - 118,469,469 (+)NCBINCBI36hg18NCBI36
Build 3411118,460,802 - 118,469,467NCBI
Celera11116,113,008 - 116,121,673 (+)NCBI
Cytogenetic Map11q23.3NCBI
HuRef11114,895,043 - 114,903,707 (+)NCBIHuRef
CHM1_111118,841,878 - 118,850,561 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)

Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Molecular Pathway Annotations
Phenotype Annotations
References - curated
References - uncurated


Comparative Map Data
Position Markers
miRNA Target Status



Nucleotide Sequences
Protein Sequences
Clinical Variants

Additional Information

External Database Links
Nomenclature History
More on HMBS
Alliance Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

CRRD Object Information
CRRD ID: 733095
Created: 2004-01-12
Species: Homo sapiens
Last Modified: 2019-11-05
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.