BCS1L

On this page, you will find information about a genetic change that was identified in a UDN participant. We are trying to find others with the same or similar condition.

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A heterozygous change in the BCS1L gene was identified in a UDN participant with muscle weakness and wasting, loss of consciousness, heart rate abnormalities, and suspected abnormal autonomic nervous system physiology

Date of Report

Jul 17, 2023

Full Name

BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone

Location

Chromosome 2 (2q35)

Function

This gene codes for a chaperone protein needed for the assembly of mitochondrial respiratory chain complex III. It also plays a role in maintaining mitochondrial tubular networks and formation of the LETM1 complex (Tamai et al. 2008).

Database Links

GeneCards: GC02P218658

MedlinePlus Genetics: BCS1

NCBI Gene: 617

OMIM: 603647

UniProtKB/Swiss-Prot: Q9Y276

Clinical Significance

A heterozygous change in this gene was identified in a UDN participant.

Gene BCS1L

Inheritance Pattern Autosomal recessive

Position (hg19) chr2:g.219526207del

Transcript NM_004328.4

DNA Change c.399del

Protein Change p.Glu133AspfsTer25

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