full name
hydroxymethylbilane synthase

synonyms
PBG-D, PBGD, PORC, UPS, HMBS, ENSG00000256269

HGNC
HGNC:4982

Entrez Gene
Gene:3145

ENSEMBL
ENSG00000256269
ENSG00000261883

location
chr: 11
start: 118955587
stop: 118964259
strand: +

OMIM
OMIM:609806: HMBS (Autosomal dominant inheritance)
OMIM:176000: Porphyria, acute intermittent
OMIM:176000: Porphyria, acute intermittent, nonerythroid variant

transcripts
NM_001258209.1
NM_000190.3
NM_001258208.1
NM_001024382.1

pathways
Heme biosynthesis [NCBI:1270187] [REACTOME:R-HSA-189451] [PUBMED:16839620] [PUBMED:10522552]
Metabolic pathways [NCBI:132956] [KEGG:hsa01100]
Metabolism [NCBI:1269956] [REACTOME:R-HSA-1430728]
Metabolism of porphyrins [NCBI:1270186] [REACTOME:R-HSA-189445]
Porphyrin and chlorophyll metabolism [NCBI:83021] [KEGG:hsa00860] [PUBMED:12195810] [PUBMED:11283349] [PUBMED:10217486] [PUBMED:11007789] [PUBMED:10518530] [PUBMED:12055304] [PUBMED:12196148] [PUBMED:17506685] [PUBMED:16245042] [PUBMED:23922391] [PUBMED:23042036] [PUBMED:9461500]
heme biosynthesis [NCBI:545289] [BIOCYC:HUMAN_PWY-5920] [PUBMED:6769048] [PUBMED:7592564] [PUBMED:3816774] [PUBMED:20506125] [PUBMED:23471474] [PUBMED:9564029] [PUBMED:7592562] [PUBMED:3346226]
tetrapyrrole biosynthesis [NCBI:142231] [BIOCYC:HUMAN_PWY-5189] [PUBMED:16564539] [PUBMED:6769048] [PUBMED:17227226]