HMBS

• Official Symbol: HMBS
• Official Name: hydroxymethylbilane synthase
• Aliases and Previous Symbols: N/A
• Entrez ID: 3145
• UniProt: P08397
• Interactions: BioGRID
• PubMed articles: Open PubMed
• OMIM: Open OMIM

• Entrez Summary: This gene encodes a member of the hydroxymethylbilane synthase superfamily. The encoded protein is the third enzyme of the heme biosynthetic pathway and catalyzes the head to tail condensation of four porphobilinogen molecules into the linear hydroxymethylbilane. Mutations in this gene are associated with the autosomal dominant disease acute intermittent porphyria. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008].
• UniProt Summary: Tetrapolymerization of the monopyrrole PBG into the hydroxymethylbilane pre-uroporphyrinogen in several discrete steps.

Pfam Domains GO Terms

Compound Hit Most Correlated Genes in Chemogenomics Tissues where Essential in the Avana Dataset (DepMap 20Q1)

• Essentiality Rank: 5134
• Expression level (log2 read counts): 5.24

Expression Distribution

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HMBS Expression in NALM6 Cells: 5.24