HMOX2

Chr 16

heme oxygenase 2

Also known as: HO-2

NCBI Gene: 3163 ENSG00000103415 UniProt: P30519

Heme oxygenase-2 catalyzes the oxidative cleavage of heme to generate biliverdin, carbon monoxide, and iron, serving as the constitutive isoform of this essential heme catabolism enzyme. Mutations in HMOX2 cause autosomal recessive heme oxygenase-2 deficiency, a rare disorder affecting heme metabolism. The gene shows low constraint against loss-of-function variants, consistent with its recessive inheritance pattern.

ResearchSummary from RefSeq, UniProt

Heme oxygenase, an essential enzyme in heme catabolism, cleaves heme to form biliverdin, which is subsequently converted to bilirubin by biliverdin reductase, and carbon monoxide, a putative neurotransmitter. Heme oxygenase activity is induced by its substrate heme and by various nonheme substances. Heme oxygenase occurs as 2 isozymes, an inducible heme oxygenase-1 and a constitutive heme oxygenase-2. HMOX1 and HMOX2 belong to the heme oxygenase family. Several alternatively spliced transcript variants encoding three different isoforms have been found for this gene. [provided by RefSeq, Oct 2013]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.97

LOEUF

Mechanism· predicted

Some data sources returned errors (1)

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