Gene table of HMBS : hydroxymethylbilane synthase

Gene-disease associations table

Disease ID	Disease name	Source of annotation with HMBS	OMIM link	Number of associated genes	genes
176000	PORPHYRIA, ACUTE INTERMITTENT	ClinVar, OMIM, HUMSAVAR	link to OMIM	1	HMBS

Associated genes in ENSEMBL

Associated proteins - SwissProt Accession ID

Associated PDB IDs

Cytogenetic Band

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

Associated KEGG pathways

KEGG pathway	KEGG ID	KEGG IC
Porphyrin and chlorophyll metabolism	hsa00860	7.41
Metabolic pathways	hsa01100	2.49

Associated REACTOME pathways

Associated GO terms for Molecular function

GO term	GO ID	GO IC
anion binding	GO:0043168	4.17
coenzyme binding	GO:0050662	4.53
hydroxymethylbilane synthase activity	GO:0004418	9.74
transferase activity, transferring alkyl or aryl (other than methyl) groups	GO:0016765	5.58
carbon-oxygen lyase activity	GO:0016835	5.46
hydro-lyase activity	GO:0016836	5.81
carboxylic acid binding	GO:0031406	4.64
ion binding	GO:0043167	1.36
catalytic activity	GO:0003824	1.05
transferase activity	GO:0016740	1.95
cofactor binding	GO:0048037	4.16
binding	GO:0005488	0.18
amine binding	GO:0043176	7.34
lyase activity	GO:0016829	4.53
uroporphyrinogen-III synthase activity	GO:0004852	9.05