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MT000080

UniProt Annotations

Entry Information

Gene Name	BC1 (ubiquinol-cytochrome c reductase) synthesis-like
Protein Entry	BCS1_HUMAN
UniProt ID	Q9Y276
Species	Human

Comments

Comment type	Description
Disease	Bjoernstad syndrome (BJS) [MIM:262000]: An autosomal recessive disease characterized by congenital sensorineural hearing loss and twisted hairs (pili torti). Pili torti is a condition in which the hair shafts are flattened at irregular intervals and twisted 180 degrees from the normal axis, making the hair extremely brittle. {ECO:0000269\|PubMed:17314340}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Disease	GRACILE syndrome (GRACILE) [MIM:603358]: GRACILE stands for 'growth retardation, aminoaciduria, cholestasis, iron overload, lactic acidosis, and early death'. It is a recessively inherited lethal disease characterized by fetal growth retardation, lactic acidosis, aminoaciduria, cholestasis, and abnormalities in iron metabolism. {ECO:0000269\|PubMed:12215968, ECO:0000269\|PubMed:17314340}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Disease	Mitochondrial complex III deficiency, nuclear 1 (MC3DN1) [MIM:124000]: A disorder of the mitochondrial respiratory chain resulting in a highly variable phenotype depending on which tissues are affected. Clinical features include mitochondrial encephalopathy, psychomotor retardation, ataxia, severe failure to thrive, liver dysfunction, renal tubulopathy, muscle weakness and exercise intolerance. {ECO:0000269\|PubMed:11528392, ECO:0000269\|PubMed:12910490, ECO:0000269\|PubMed:17314340, ECO:0000269\|PubMed:17403714, ECO:0000269\|PubMed:19162478}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Function	Chaperone necessary for the assembly of mitochondrial respiratory chain complex III. Plays an important role in the maintenance of mitochondrial tubular networks, respiratory chain assembly and formation of the LETM1 complex. {ECO:0000269\|PubMed:18628306}.
Similarity	Belongs to the AAA ATPase family. BCS1 subfamily. {ECO:0000305}.
Subcellular Location	Mitochondrion inner membrane {ECO:0000269\|PubMed:18628306, ECO:0000269\|PubMed:9878253}; Single- pass membrane protein {ECO:0000269\|PubMed:18628306, ECO:0000269\|PubMed:9878253}.
Subunit	Interacts with LETM1. {ECO:0000269\|PubMed:18628306}.
Tissue Specificity	Ubiquitous. {ECO:0000269\|PubMed:9878253}.