rs386134132
This is a variant in the CP gene that changes a methionine to an valine.
▶ClinVar annotation
About CP
The protein encoded by this gene is a metalloprotein that binds most of the copper in plasma and is involved in the peroxidation of Fe(II)transferrin to Fe(III) transferrin. Mutations in this gene cause aceruloplasminemia, which results in iron accumulation and tissue damage, and is associated with diabetes and neurologic abnormalities. Two transcript variants, one protein-coding and the other not protein-coding, have been found for this gene. [provided by RefSeq, Feb 2012]
View all CP variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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