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ABCD4 요약 및 단백질 정보

ABCD4 배경

하부단위 구조: Homodimer or heterodimer (Potential).
세포하 위치: Peroxisome membrane; Multi-pass membrane protein.
조직 특이성: Ubiquitous.
질병과의 관련성: 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. 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.
Contains 1 ABC transmembrane type-1 domain.
Contains 1 ABC transporter domain.
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

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