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    ABCA3 サマリー & タンパク質情報

    ABCA3 背景

    ドメイン: Multifunctional polypeptide with two homologous halves, each containing a hydrophobic membrane-anchoring domain and an ATP binding cassette (ABC) domain. {ECO:0000250}.
    細胞内位置: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
    組織特異性: Highly expressed in lung, followed by brain, pancreas, skeletal muscle and heart. Weakly expressed in placenta, kidney and liver. Also expressed in medullary thyroid carcinoma cells (MTC) and in C-cell carcinoma.
    疾患関連性: DISEASE: Pulmonary surfactant metabolism dysfunction 3 (SMDP3) [MIM:610921]: A rare lung disorder due to impaired surfactant homeostasis. It is characterized by alveolar filling with floccular material that stains positive using the periodic acid-Schiff method and is derived from surfactant phospholipids and protein components. Excessive lipoproteins accumulation in the alveoli results in severe respiratory distress. {ECO:0000269|PubMed:15044640}. 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. ABCA family. {ECO:0000305}.; Contains 2 ABC transporter domains. {ECO:0000255|PROSITE-ProRule:PRU00434}.
    General information above from UniProt

    ABCA3 代替名

    ABC3,ABC-C,SMDP3,LBM180,EST111653, [homo-sapiens]
    Abc3,ABC-C,1810036E22Rik, [mus-musculus]

    ABCA3 関連研究

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