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ABCB6 関連経路

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    ABCB6 サマリー & タンパク質情報

    ABCB6 背景

    サブユニット構造: Homodimer.
    細胞内位置: Cell membrane. Mitochondrion outer membrane; Multi-pass membrane protein. Endoplasmic reticulum. Golgi apparatus.
    組織特異性: Widely expressed. High expression is detected in the retinal epithelium.
    発生段階: Highly expressed in fetal liver.
    誘導: Up-regulated by cellular porphyrins (at protein level).
    疾患関連性: 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.
    シーケンスの類似性: 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 代替名

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

    ABCB6 関連研究