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Symbol report for HMBS

HGNC data for HMBS

Approved symbol
HMBS
Approved name

hydroxymethylbilane synthase

Locus type
gene with protein product
HGNC ID
HGNC:4982
Symbol status
Approved
Previous symbols
PBGD
UPS
PORC
Previous names
uroporphyrinogen I synthase
porphobilinogen deaminase
porphyria, acute; Chester type
Chromosomal location
11q23.3
Gene resources for HMBS
Ensembl
ENSG00000256269 Curated
Ensembl region in detailEnsembl gene sequence
NCBI Gene
3145 Curated
UCSC
uc001puz.2
Alliance of Genome Resources
HGNC:4982
Nucleotide resources for HMBS
MANE Select
NM_000190.4
ENST00000652429.1
INSDC
X04808 Curated
ENAGenBankDDBJ
RefSeq
NM_000190 Curated
NCBI sequence viewer
Protein resources for HMBS
UniProt/Swiss-Prot
P08397
InterProPDBeReactome
AlphaFold
AF-P08397-F1
Enzyme Commission
2.5.1.61 Curated
ExpasyBRENDAKEGGIntEnzIUBMB Enzyme Nomenclature
Orthologs from selected species for HMBS
Bos taurus
HMBS VGNC:29870 VGNC
Canis familiaris
HMBS VGNC:41704 VGNC
Equus caballus
HMBS VGNC:59257 VGNC
Felis catus
HMBS VGNC:67590 VGNC
Macaca mulatta
HMBS VGNC:73479 VGNC
Mus musculus
Hmbs MGI:96112 Curated
Pan troglodytes
HMBS VGNC:11809 VGNC
Rattus norvegicus
Hmbs RGD:2801
Sus scrofa
HMBS VGNC:88899 VGNC
Clinical resources for HMBS
OMIM
609806
LRG
LRG_1076 Curated
GenCC
HGNC:4982
MedlinePlus
Search via HMBS
DECIPHER
Search via HMBS
ClinGen
Search via HGNC:4982
Genetic Testing Registry
Search via NCBI Gene ID 3145
ClinVar
Search via NCBI Gene ID 3145
dbVar
Search via NCBI Gene ID 3145
Orphanet
122438
Other resources for HMBS
AmiGO
Search via P08397
QuickGO
Search via P08397
BioGPS
Search via NCBI Gene ID 3145
GeneCards
Search via HGNC:4982
Monarch
Search via HGNC:4982
WikiGenes
Search via NCBI Gene ID 3145
References for HMBS