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ABCB6 관련 경로

    ABCB6 요약 및 단백질 정보

    ABCB6 배경

    하부단위 구조: Homodimer. {ECO:0000269|PubMed:16791740, ECO:0000269|PubMed:17006453}.
    세포하 위치: Cell membrane. Mitochondrion outer membrane; Multi-pass membrane protein. Endoplasmic reticulum. Golgi apparatus. Endosome {ECO:0000250}. Note=localized to the endosome-like compartement and dendrite tips.
    조직 특이성: Widely expressed. High expression is detected in the retinal epithelium. {ECO:0000269|PubMed:10837493, ECO:0000269|PubMed:22226084}.
    발생 단계: Highly expressed in fetal liver. {ECO:0000269|PubMed:17006453}.
    유도: Up-regulated by cellular porphyrins (at protein level). Up-regulated during erythroid differentiation (at protein level). {ECO:0000269|PubMed:17006453, ECO:0000269|PubMed:23180570}.
    질병과의 관련성: DISEASE: Microphthalmia, isolated, with coloboma, 7 (MCOPCB7) [MIM:614497]: A disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues. Ocular abnormalities like opacities of the cornea and lens, scaring of the retina and choroid, and other abnormalities may also be present. Ocular colobomas are a set of malformations resulting from abnormal morphogenesis of the optic cup and stalk, and the fusion of the fetal fissure (optic fissure). {ECO:0000269|PubMed:22226084}. Note=The disease is caused by mutations affecting the gene represented in this entry.; DISEASE: Dyschromatosis universalis hereditaria 3 (DUH3) [MIM:615402]: An autosomal dominant pigmentary genodermatosis characterized by a mixture of hyperpigmented and hypopigmented macules distributed randomly over the body, that appear in infancy or early childhood. The trunk and extremities are the dominant sites of abnormal pigmentation. Facial lesions can be seen in 50% of affected individuals, but involvement of palms and soles is unusual. Abnormalities of hair and nails have also been reported. Dyschromatosis universalis hereditaria may be associated with abnormalities of dermal connective tissue, nerve tissue, or other systemic complications. {ECO:0000269|PubMed:23519333, ECO:0000269|PubMed:24224009, ECO:0000269|PubMed:24498303}. Note=The disease is caused by mutations affecting the gene represented in this entry.; DISEASE: Note=ABCB6 mutations are involved in familial pseudohyperkalemia, a dominantly inherited condition characterized by increased serum potassium levels, measured in whole-blood specimens stored at or below room temperature. This condition is not accompanied by clinical symptoms or biological signs except for borderline abnormalities of red cell shape (PubMed:23180570). {ECO:0000269|PubMed:23180570}.
    염기서열 유사성: Belongs to the ABC transporter superfamily. ABCB family. Heavy Metal importer (TC 3.A.1.210) subfamily. {ECO:0000305}.; Contains 1 ABC transmembrane type-1 domain. {ECO:0000255|PROSITE-ProRule:PRU00441}.; Contains 1 ABC transporter domain. {ECO:0000255|PROSITE-ProRule:PRU00434}.
    General information above from UniProt

    ABCB6 대체 이름

    ABC,LAN,PRP,DUH3,umat,ABC14,MTABC3,MCOPCB7, [homo-sapiens]
    1200005B17Rik, [mus-musculus]

    ABCB6 관련 연구

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