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    ABCD4 サマリー & タンパク質情報

    ABCD4 背景

    サブユニット構造: Homodimer or heterodimer. {ECO:0000305}.
    細胞内位置: Peroxisome membrane; Multi-pass membrane protein.
    組織特異性: Ubiquitous.
    疾患関連性: DISEASE: Methylmalonic aciduria and homocystinuria type cblJ (MAHCJ) [MIM:614857]: A disorder of cobalamin metabolism characterized by decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl). Clinical features include feeding difficulties, poor growth, hypotonia, lethargy, anemia, and developmental delay. {ECO:0000269|PubMed:22922874}. 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. ABCD family. Peroxisomal fatty acyl CoA transporter (TC 3.A.1.203) 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

    ABCD4 代替名

    P70R,P79R,ABC41,MAHCJ,PMP69,PXMP1L,EST352188, [homo-sapiens]
    P69r,P70R,Pxmp1l, [mus-musculus]

    ABCD4 関連研究