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ABCB7  タンパク質

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ABCB7 サマリー & タンパク質情報

ABCB7 背景

サブユニット構造: Homodimer or heterodimer (Potential).
細胞内位置: Mitochondrion inner membrane; Multi-pass membrane protein (Potential).
疾患関連性: Anemia, sideroblastic, spinocerebellar ataxia (ASAT) [MIM:301310]: A X-linked recessive disorder characterized by an infantile to early childhood onset of non-progressive cerebellar ataxia and mild anemia, with hypochromia and microcytosis. 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

ABCB7 代替名

ABC7,ASAT,Atm1p,EST140535, [homo-sapiens]
Abc7,AA517758,AU019072, [mus-musculus]

ABCB7 関連研究