rs150872185
This variant is located in the ABCB8 gene.
▶ClinVar annotation
About ABCB8
This nuclear gene encodes a multi-pass membrane protein that is targeted to the mitochondrial inner membrane. The encoded protein is an ATP-dependent transporter that may mediate the passage of organic and inorganic molecules out of the mitochondria. Loss of function of the related gene in mouse results in a disruption of iron homeostasis between the mitochondria and cytosol. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]
View all ABCB8 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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