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Disorder DSH DUH RAPK DPR Mode of inheritance AD AD AD AD Gene mutation ADAR1 ABCB6 ADAM10 KRT14 Chromosome location 1q21.3 2q35 15q21.3 17q11.2-q21 Disorder NFJS EBS-MP ACD Mode of inheritance AD AD AR Gene mutation KRT14 KRT5 Unknown Chromosome location 17q11.2-q21 12q13.13 Unknown AD: autosomal dominant; AR: autosomal recessive; DSH: dyschromatosis symmetrica hereditaria; DUH: dyschromatosis universalis hereditaria; RAPK: retic- ulate acropigmentation of Kitamura; DPR: dermatopathia pigmentosa reticularis; NFJS: Naegeli-Franceschetti-Jadassohn Syndrome; EBS-MP: epidermolysis bullosa simplex with mottled pigmentation; ACD: amyloidosis cutis dyschromica.
Here, we reported three cases of dyschromatoses from two Chinese families initially diagnosed with DUH, until targeted gene sequencing revealed a novel ADAR1 gene mutation in one family and a recurrent ABCB6 gene mutation in another family.
Of particular interest in this respect is the prospect of deficient mitochondrial porphyrin uptake mediated by the recently identified mammalian mitochondrial porphyrin transporter Abcb6 (Krishnamurthy et al.
ABCB6 (ABCB Member 6), a protein very similar to ABCB7, has been shown to localize at the outer mitochondrial membrane (45).
ABCB6 Hs00180568_ml 19.55 (0.11) ABCB7 Hs00188776_ml 14.75 (0.17) ABCB8 Hs00185159_ml 18.56 (0.30) ABCB9 Hs00608690_m1 22.29 (0.68) ABCB10 Hs00429290_ml 14.66 (0.29) ABCB11 Hs00184824_m1 n.e.
THE MITOCHONDRIAL TRANSPORTER ABCB6 PROMOTES HYPOXIC SURVIVAL AND ITS EXPRESSION IS REGULATED BY HYPOXIC SIGNALS.