ABCD4  단백질

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    ABCD4 요약 및 단백질 정보

    ABCD4 배경

    하부단위 구조: Homodimer or heterodimer. {ECO:0000305}.
    세포하 위치: Peroxisome membrane; Multi-pass membrane protein.
    조직 특이성: Ubiquitous.
    질병과의 관련성: 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.
    염기서열 유사성: 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 대체 이름

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

    ABCD4 관련 연구

    주의 : 모든 제품은 "연구 목적만을 위한 것이며 진단이나 치료에 사용하도록 의도되지 않았습니다".