mitochondrial chaperone BCS1; h-BCS1; BCS1-like protein (BCS1L BCS1)

Introduction

Chaperone in the assembly of mitochondrial electron transport complex III.

Function

• chaperone necessary for the assembly of mitochondrial respiratory chain complex III
• role in maintenance of mitochondrial tubular networks, respiratory chain assembly & formation of the LETM1 complex
• interacts with LETM1

Structure

• belongs to the AAA ATPase family, BCS1 subfamily

Compartment

• mitochondrial inner membrane, single-pass membrane protein

Expression

ubiquitous

Pathology

• defects in BCS1L are the cause of
  • GRACILE syndrome
  • Bjoernstad syndrome
• defects in BCS1L are a cause of mitochondrial complex III deficiency

More general terms

• mitochondrial membrane protein
• chaperonin; chaperone
• phosphoprotein

Additional terms

• GRACILE syndrome
• mitochondrial complex III deficiency

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=617
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:617
• OMIM: https://mirror.omim.org/entry/124000
• OMIM: https://mirror.omim.org/entry/262000
• OMIM: https://mirror.omim.org/entry/603358
• OMIM: https://mirror.omim.org/entry/603647
• UniProt: http://www.uniprot.org/uniprot/Q9Y276.html