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Gene: HMBS (hydroxymethylbilane synthase) Homo sapiens
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Symbol: HMBS
Name: hydroxymethylbilane synthase
Description: Exhibits hydroxymethylbilane synthase activity. Predicted to be involved in heme biosynthetic process. Predicted to localize to 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
Orthologs:
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)
Chlorocebus sabaeus (African green monkey) : HMBS (hydroxymethylbilane synthase)
Heterocephalus glaber (naked mole-rat) : Hmbs (hydroxymethylbilane synthase)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38 Ensembl11119,084,866 - 119,093,549 (+)EnsemblGRCh38hg38GRCh38
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)
Model


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

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Expression

RNA-SEQ Expression

Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

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

RGD Object Information
RGD ID: 733095
Created: 2004-01-12
Species: Homo sapiens
Last Modified: 2020-03-24
Status: ACTIVE



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