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Gene: Hmbs (hydroxymethylbilane synthase) Mus musculus
Symbol: Hmbs
Name: hydroxymethylbilane synthase
Description: Predicted to have several functions, including amine binding activity; hydroxymethylbilane synthase activity; and uroporphyrinogen-III synthase activity. Predicted to be involved in heme biosynthetic process. Predicted to colocalize with the condensed chromosome. Used to study acute intermittent porphyria. Human ortholog(s) of this gene implicated in acute intermittent porphyria and sickle cell anemia. Is expressed in several structures, including alimentary system; genitourinary system; liver; nose; and telencephalon. Orthologous to human HMBS (hydroxymethylbilane synthase); PARTICIPATES IN acute intermittent porphyria pathway; erythropoietic porphyria pathway; heme biosynthetic pathway; INTERACTS WITH 17alpha-ethynylestradiol; 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: PBG-D; PBGD; porphobilinogen deaminase; pre-uroporphyrinogen synthase; T25658; Ups; Uros1
Homo sapiens (human) : HMBS (hydroxymethylbilane synthase)  HGNC  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)
Chlorocebus sabaeus (African green monkey) : HMBS (hydroxymethylbilane synthase)
Heterocephalus glaber (naked mole-rat) : Hmbs (hydroxymethylbilane synthase)
more info ...
Related Pseudogenes: Gm29718  
Latest Assembly: GRCm38 - Mouse Genome Assembly GRCm38
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
GRCm38 Ensembl944,336,339 - 44,344,228 (-)Ensembl
GRCm38944,336,348 - 44,344,228 (-)NCBIGRCm38GRCm38mm10GRCm38
MGSCv37944,144,431 - 44,152,311 (-)NCBIGRCm37mm9NCBIm37
MGSCv36944,087,343 - 44,095,170 (-)NCBImm8
Celera941,591,069 - 41,599,175 (-)NCBICelera
Cytogenetic Map9A5.2NCBI
cM Map924.84NCBI
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
QTLs in Region (GRCm38)
miRNA Target Status



Nucleotide Sequences
Protein Sequences

Additional Information

External Database Links
More on Hmbs
Alliance Gene
Ensembl Gene
JBrowse: mm9 mm10
MGI Report
NCBI Genome Data Viewer

RGD Object Information
RGD ID: 733096
Created: 2004-01-12
Species: Mus musculus
Last Modified: 2020-02-11
Status: ACTIVE


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