This gene is a member of the bestrophin gene family of anion channels. Bestrophin genes share a similar gene structure with highly conserved exon-intron boundaries, but with distinct 3' ends. Bestrophins are transmembrane proteins that contain a homologous region rich in aromatic residues, including an invariant arg-phe-pro motif. Mutation in one of the family members (bestrophin 1) is associated with vitelliform macular dystrophy. The bestrophin 4 gene is predominantly expressed in the colon. [provided by RefSeq, Jul 2008].
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Stöhr, Marquardt, Nanda, Schmid, Weber: "Three novel human VMD2-like genes are members of the evolutionary highly conserved RFP-TM family." in: European journal of human genetics : EJHG, Vol. 10, Issue 4, pp. 281-4, (2002) (PubMed).