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    ABCB6 관련 제품

    ABCB6 관련 제품

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    ABCB6 요약 및 단백질 정보

    ABCB6 배경

    하부단위 구조: Homodimer.
    세포하 위치: Cell membrane. Mitochondrion outer membrane; Multi-pass membrane protein. Endoplasmic reticulum. Golgi apparatus.
    조직 특이성: Widely expressed. High expression is detected in the retinal epithelium.
    발생 단계: Highly expressed in fetal liver.
    유도: Up-regulated by cellular porphyrins (at protein level).
    질병과의 관련성: 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). Note=The disease is caused by mutations affecting the gene represented in this entry.
    염기서열 유사성: Belongs to the ABC transporter superfamily. ABCB family. Heavy Metal importer (TC 3.A.1.210) subfamily.
    Contains 1 ABC transmembrane type-1 domain.
    Contains 1 ABC transporter domain.
    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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