rs2457335
This variant is located in the MBOAT1 gene.
About MBOAT1
This gene belongs to the membrane-bound O-acetyltransferase superfamily. The encoded transmembrane protein is an enzyme that transfers organic compounds, preferably from oleoyl-CoA, to hydroxyl groups of protein targets in membranes. A translocation disrupting this gene may be associated with brachydactyly syndactyly syndrome. Alternately spliced transcript variants have been described for this gene. [provided by RefSeq, Nov 2012]
View all MBOAT1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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