Recombinant Human Mitochondrial chaperone BCS1 (BCS1L), Truncated

Uniprot Id

Q9Y276

Target Species

Human

Target Name

BCS1L

Target Full Name

Mitochondrial chaperone BCS1

Target 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.

Target Involvement

GRACILE syndrome (GRACILE); Mitochondrial complex III deficiency, nuclear 1 (MC3DN1); Bjoernstad syndrome (BJS)

Target Subcellular Location

Mitochondrion inner membrane; Single-pass membrane protein.

Target Protein Families

AAA ATPase family, BCS1 subfamily

Target Tissue Specificity

Ubiquitous.

Target Synonyms

BCS1L; BCS1; Mitochondrial chaperone BCS1; h-BCS1; BCS1-like protein

Target Background

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. Several alternatively spliced transcripts encoding two different isoforms have been described.