MB Chromosome 22

Myoglobin
1 variant 1 Health Risk

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What This Gene Does
This gene encodes a member of the globin superfamily and is predominantly expressed in skeletal and cardiac muscles. The encoded protein forms a monomeric globular haemoprotein that is primarily responsible for the storage and facilitated transfer of oxygen from the cell membrane to the mitochondria. This protein also plays a role in regulating physiological levels of nitric oxide. Multiple transcript variants encoding distinct isoforms exist for this gene. [provided by RefSeq, May 2020]
Associated Conditions (3)
Myopathy
sarcoplasmic body
Colorectal carcinoma
Key Variants
All Variants (1)
RSID Category Clinical Significance Conditions
RS1601842249 Health Risk Pathogenic/Likely pathogenic Myopathy, sarcoplasmic body, Colorectal carcinoma
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