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Sequence of this protein is as follows: ASTEARIVFM TTNHVDRLDP ALIRPGRVDL KEYVGYCSHW QLTQMFQRFY PGQAPSLAEN FAEHVLRATN QISPAQVQGY FMLYKNDPVG AIHNAESLR
This gene encodes a homolog of the S. cerevisiae bcs1 protein which is involved in the assembly of complex III of the mitochondrial respiratory chain. The encoded protein does not contain a mitochondrial targeting sequence but experimental studies confirm that it is imported into mitochondria. Mutations in this gene are associated with mitochondrial complex III deficiency and the GRACILE syndrome. Five alternatively spliced transcripts encoding the same protein have been described.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: BC1 (ubiquinol-cytochrome c reductase) synthesis-like; BCS1-like protein; h-BCS1; Mitochondrial chaperone BCS1; mitochondrial complex III assembly
基因别名: BCS; BCS1; BCS1L; BJS; FLNMS; GRACILE; h-BCS; h-BCS1; Hs.6719; MC3DN1; PTD
UniProt ID: (Human) Q9Y276
Entrez Gene ID: (Human) 617