BCS1L Gene (Protein Coding)

BCS1 Homolog, Ubiquinol-Cytochrome C Reductase Complex Chaperone

GC02P218658
GIFtS:
45
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 t... See more...

Aliases for BCS1L Gene

Aliases for BCS1L Gene

  • BCS1 Homolog, Ubiquinol-Cytochrome C Reductase Complex Chaperone 2 3 5
  • BC1 (Ubiquinol-Cytochrome C Reductase) Synthesis-Like 2 3
  • Mitochondrial Chaperone BCS1 3 4
  • BCS1-Like Protein 3 4
  • Hs.6719 2 3
  • H-BCS1 3 4
  • H-BCS 2 3
  • BCS1 3 4
  • BCS 2 3
  • BJS 2 3
  • Mitochondrial Complex III Assembly 3
  • BCS1 (Yeast Homolog)-Like 2
  • BCS1-Like (S. Cerevisiae) 2
  • Bjornstad Syndrome 2
  • BCS1-Like (Yeast) 2
  • GRACILE Syndrome 2
  • GRACILE 3
  • MC3DN1 3
  • FLNMS 3
  • BCS1L 5
  • PTD 3

External Ids for BCS1L Gene

Previous GeneCards Identifiers for BCS1L Gene

  • GC02P217540
  • GC02P218245
  • GC02P219488
  • GC02P219727
  • GC02P219726
  • GC02P219349
  • GC02P219231
  • GC02P219523
  • GC02P211377

Summaries for BCS1L Gene

Entrez Gene Summary for BCS1L Gene

  • 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. [provided by RefSeq, Jan 2016]

GeneCards Summary for BCS1L Gene

BCS1L (BCS1 Homolog, Ubiquinol-Cytochrome C Reductase Complex Chaperone) is a Protein Coding gene. Diseases associated with BCS1L include Gracile Syndrome and Bjornstad Syndrome. Among its related pathways are Metabolism of proteins and Mitochondrial protein import. Gene Ontology (GO) annotations related to this gene include RNA binding and RNA helicase activity.

UniProtKB/Swiss-Prot Summary for BCS1L Gene

  • 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.

Gene Wiki entry for BCS1L Gene

Additional gene information for BCS1L Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for BCS1L Gene

Genomics for BCS1L Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for BCS1L Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around BCS1L on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for BCS1L

Top Transcription factor binding sites by QIAGEN in the BCS1L gene promoter:
  • AP-1
  • ATF-2
  • c-Jun
  • CREB
  • deltaCREB
  • GR

Genomic Locations for BCS1L Gene

Latest Assembly
chr2:218,658,764-218,663,443
(GRCh38/hg38)
Size:
4,680 bases
Orientation:
Plus strand

Previous Assembly
chr2:219,524,406-219,528,166
(GRCh37/hg19 by Entrez Gene)
Size:
3,761 bases
Orientation:
Plus strand

chr2:219,523,487-219,528,166
(GRCh37/hg19 by Ensembl)
Size:
4,680 bases
Orientation:
Plus strand

Genomic View for BCS1L Gene

Genes around BCS1L on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BCS1L Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BCS1L Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for BCS1L Gene

Proteins for BCS1L Gene

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  1. Antibodies for research
  2. Protein products for research
  3. Assay products for research

  • Protein details for BCS1L Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y276-BCS1_HUMAN
    Recommended name:
    Mitochondrial chaperone BCS1
    Protein Accession:
    Q9Y276
    Secondary Accessions:
    • B3KTW9
    • Q7Z2V7

    Protein attributes for BCS1L Gene

    Size:
    419 amino acids
    Molecular mass:
    47534 Da
    Quaternary structure:
    • Interacts with LETM1.

neXtProt entry for BCS1L Gene

Protein Expression for BCS1L Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for BCS1L Gene

  • Ubiquitination at Lys145, Lys213, and Lys300
  • Modification sites at PhosphoSitePlus

Other Protein References for BCS1L Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibodies for research

  • Abcam antibodies for BCS1L
  • Boster Bio Antibodies for BCS1L

No data available for DME Specific Peptides for BCS1L Gene

Domains & Families for BCS1L Gene

Gene Families for BCS1L Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Transporters

Protein Domains for BCS1L Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for BCS1L Gene

GenScript: Design optimal peptide antigens:
  • Mitochondrial chaperone BCS1L (A8BSR7_HUMAN)
  • BCS1-like protein (BCS1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9Y276

UniProtKB/Swiss-Prot:

BCS1_HUMAN :
  • Belongs to the AAA ATPase family. BCS1 subfamily.
Family:
  • Belongs to the AAA ATPase family. BCS1 subfamily.
genes like me logo Genes that share domains with BCS1L: view

Function for BCS1L Gene

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  1. Animal Models for research
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  3. miRNA products for research
  4. Inhibitory RNAs for research
  5. Clone products for research
  6. Cell Lines for research

Molecular function for BCS1L Gene

UniProtKB/Swiss-Prot 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.
GENATLAS Biochemistry:
yeast BCS1,inner mitochondrial membrane,involved in the biogenesis of mitochondrial complex III,homolog

Phenotypes From GWAS Catalog for BCS1L Gene

Gene Ontology (GO) - Molecular Function for BCS1L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0005515 protein binding IPI 18628306
GO:0005524 ATP binding IEA --
GO:0016887 ATPase activity IEA --
genes like me logo Genes that share ontologies with BCS1L: view
genes like me logo Genes that share phenotypes with BCS1L: view

Human Phenotype Ontology for BCS1L Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for BCS1L Gene

MGI Knock Outs for BCS1L:
  • Bcs1l Bcs1l<tm1.1(KOMP)Vlcg>

Animal Models for research

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BCS1L

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for BCS1L Gene

Localization for BCS1L Gene

Subcellular locations from UniProtKB/Swiss-Prot for BCS1L Gene

Mitochondrion inner membrane. Single-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for BCS1L gene
Compartment Confidence
mitochondrion 5
nucleus 2
cytosol 2
plasma membrane 1
extracellular 1
cytoskeleton 1
peroxisome 1
endoplasmic reticulum 1
lysosome 1

Gene Ontology (GO) - Cellular Components for BCS1L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA,IDA 18628306
GO:0005743 mitochondrial inner membrane IBA 21873635
GO:0005750 mitochondrial respiratory chain complex III TAS 9878253
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with BCS1L: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for BCS1L Gene

Pathways & Interactions for BCS1L Gene

PathCards logo

SuperPathways for BCS1L Gene

genes like me logo Genes that share pathways with BCS1L: view

Pathways by source for BCS1L Gene

2 Reactome pathways for BCS1L Gene

SIGNOR curated interactions for BCS1L Gene

Activates:

Gene Ontology (GO) - Biological Process for BCS1L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007005 mitochondrion organization IMP 18628306
GO:0032979 protein insertion into mitochondrial inner membrane from matrix side IBA 21873635
GO:0032981 mitochondrial respiratory chain complex I assembly IMP 18628306
GO:0033617 mitochondrial respiratory chain complex IV assembly IMP 18628306
GO:0034551 mitochondrial respiratory chain complex III assembly IEA,IMP 18628306
genes like me logo Genes that share ontologies with BCS1L: view

Drugs & Compounds for BCS1L Gene

Products:

  1. Drug products for research

(6) Drugs for BCS1L Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adenine Approved Nutra Target 0
6-bromopurine Experimental Pharma Target 0
Modified Ribosylated Glutamyl Ester Experimental Pharma Target 0
Selenoinosine Experimental Pharma Target 0
Fe2+ Experimental Pharma 0
genes like me logo Genes that share compounds with BCS1L: view

Transcripts for BCS1L Gene

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mRNA/cDNA for BCS1L Gene

22 REFSEQ mRNAs :
16 NCBI additional mRNA sequence :
21 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BCS1L

Alternative Splicing Database (ASD) splice patterns (SP) for BCS1L Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3a · 3b · 3c · 3d ^ 4a · 4b · 4c · 4d · 4e ^ 5a · 5b ^ 6a · 6b · 6c · 6d · 6e ^ 7a · 7b ^ 8 ^ 9a ·
SP1: - - - - - - - - -
SP2: - - -
SP3: - - - - -
SP4: - - - - - - - - - - -
SP5: - -
SP6: - -
SP7:
SP8:
SP9: - - - - - - - - - - - - -
SP10: - - - - - - -
SP11: - - - - - -
SP12: -
SP13: - - -
SP14: -
SP15: - - - -

ExUns: 9b · 9c ^ 10a · 10b ^ 11a · 11b
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:

Relevant External Links for BCS1L Gene

GeneLoc Exon Structure for
BCS1L

Expression for BCS1L Gene

Products:

  1. Primer products for research
  2. Gene Expression Assays for research

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for BCS1L Gene

mRNA expression in normal human tissues for BCS1L Gene
mRNA expression by BioGPS for BCS1L GenemRNA expression by GTEx for BCS1L Gene

Protein differential expression in normal tissues from HIPED for BCS1L Gene

This gene is overexpressed in Heart (7.0), Salivary gland (6.6), and Bone (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for BCS1L Gene



Protein tissue co-expression partners for BCS1L Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for BCS1L

SOURCE GeneReport for Unigene cluster for BCS1L Gene:

Hs.471401

mRNA Expression by UniProt/SwissProt for BCS1L Gene:

Q9Y276-BCS1_HUMAN
Tissue specificity: Ubiquitous.

Evidence on tissue expression from TISSUES for BCS1L Gene

  • Nervous system(4.8)
  • Muscle(4.5)
  • Intestine(4.4)
  • Skin(2.4)
  • Kidney(2.2)
  • Heart(2.2)
  • Liver(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for BCS1L Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • cerebrospinal fluid
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • larynx
  • meninges
  • mouth
  • neck
  • nose
  • pituitary gland
  • salivary gland
  • skull
  • tongue
  • vocal cord
Thorax:
  • breast
  • esophagus
  • heart
  • heart valve
  • lung
Abdomen:
  • abdominal wall
  • adrenal gland
  • biliary tract
  • gallbladder
  • kidney
  • liver
  • pancreas
  • spleen
Pelvis:
  • ovary
  • penis
  • prostate
  • testicle
  • uterus
  • vagina
  • vulva
Limb:
  • arm
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • nail
  • toe
  • upper limb
General:
  • blood
  • blood vessel
  • bone marrow
  • coagulation system
  • hair
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal cord
  • sweat gland
  • white blood cell
genes like me logo Genes that share expression patterns with BCS1L: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for BCS1L Gene

Orthologs for BCS1L Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for BCS1L Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia BCS1L 30 31
  • 96.68 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia BCS1L 30 31
  • 92.98 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia BCS1L 30 31
  • 92.12 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Bcs1l 30 17 31
  • 89.31 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Bcs1l 30
  • 88.6 (n)
Oppossum
(Monodelphis domestica)
 Mammalia BCS1L 31
  • 80 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves BCS1L 30 31
  • 76.82 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia BCS1L 31
  • 78 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia bcs1l 30
  • 72.8 (n)
Str.11802 30
African clawed frog
(Xenopus laevis)
 Amphibia bcs1l-prov 30
Zebrafish
(Danio rerio)
 Actinopterygii bcs1l 30 31
  • 69.78 (n)
 OneToOne
zgc56205 30
Rainbow Trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.13409 30
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP004266 30
  • 61.79 (n)
Fruit Fly
(Drosophila melanogaster)
 Insecta CG4908 30 31 32
  • 60.19 (n)
 OneToOne
Worm
(Caenorhabditis elegans)
 Secernentea bcs-1 30 31
  • 52.53 (n)
 OneToOne
F54C9.6 32
  • 49 (a)
A. gosspyii yeast
(Eremothecium gossypii)
 Saccharomycetes AGOS_ACR200C 30
  • 57.22 (n)
Baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes BCS1 30 31 33
  • 53.66 (n)
 OneToOne
K. Lactis Yeast
(Kluyveromyces lactis)
 Saccharomycetes KLLA0E02487g 30
  • 51.45 (n)
Fission Yeast
(Schizosaccharomyces pombe)
 Schizosaccharomycetes SPAC644.07 30
  • 50.87 (n)
Sea Squirt
(Ciona savignyi)
 Ascidiacea -- 31
  • 46 (a)
 OneToOne
Sea Vase
(Ciona intestinalis)
 Ascidiacea Cin.8680 30
Species where no ortholog for BCS1L was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for BCS1L Gene

ENSEMBL:
Gene Tree for BCS1L (if available)
TreeFam:
Gene Tree for BCS1L (if available)
Aminode:
Evolutionary constrained regions (ECRs) for BCS1L: view image

Paralogs for BCS1L Gene

(1) SIMAP similar genes for BCS1L Gene using alignment to 9 proteins:

  • BCS1_HUMAN
  • A8BSR7_HUMAN
  • C9J1S9_HUMAN
  • C9J4Q9_HUMAN
  • C9J8G3_HUMAN
  • C9JAS4_HUMAN
  • H7BZF6_HUMAN
  • H7C492_HUMAN
  • Q53RT4_HUMAN
genes like me logo Genes that share paralogs with BCS1L: view

No data available for Paralogs for BCS1L Gene

Variants for BCS1L Gene

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  1. SNP Genotyping and Copy Number Assays for research

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for BCS1L Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
863524 Pathogenic: not provided 218,661,440(+) C/T
NM_001079866.2(BCS1L):c.355C>T (p.Arg119Ter) 		NONSENSE,NON_CODING_TRANSCRIPT_VARIANT,FIVE_PRIME_UTR_VARIANT,INTRON
869398 Uncertain Significance: Decreased activity of mitochondrial complex III 218,663,157(+) C/T
NM_001079866.2(BCS1L):c.1031C>T (p.Pro344Leu) 		MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
869399 Uncertain Significance: Decreased activity of mitochondrial complex III 218,661,573(+) AGGGACATTGCAGGGA
NM_001079866.2(BCS1L):c.460+37_460+53del 		INTRON
895700 Uncertain Significance: Mitochondrial complex III deficiency, nuclear type 1; Leigh syndrome; GRACILE syndrome 218,661,864(+) A/G
NM_001079866.2(BCS1L):c.566A>G (p.Asn189Ser) 		MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
898620 Uncertain Significance: Mitochondrial complex III deficiency, nuclear type 1; Leigh syndrome; GRACILE syndrome 218,659,708(+) G/A
NM_001079866.2(BCS1L):c.-85G>A 		NON_CODING_TRANSCRIPT_VARIANT,FIVE_PRIME_UTR

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for BCS1L Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Variation tolerance for BCS1L Gene

Residual Variation Intolerance Score: 57.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.93; 67.86% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for BCS1L Gene

Human Gene Mutation Database (HGMD)
BCS1L
SNPedia medical, phenotypic, and genealogical associations of SNPs for
BCS1L

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for BCS1L Gene

Disorders for BCS1L Gene

MalaCards: The human disease database

(33) MalaCards diseases for BCS1L Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

Disorder Aliases PubMed IDs
gracile syndrome
  • growth retardation, amino aciduria, cholestasis, iron overload, lactic acidosis, and early death
bjornstad syndrome
  • bjs
mitochondrial complex iii deficiency, nuclear type 1
  • mc3dn1
mitochondrial complex iii deficiency
  • complex 3 mitochondrial respiratory chain deficiency
movement disease
  • movement disorder
- elite association - COSMIC cancer census association via MalaCards
Search BCS1L in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

BCS1_HUMAN
  • 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 variants affecting the gene represented in this entry.
  • 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:18628306, ECO:0000269 PubMed:19162478, ECO:0000269 PubMed:22991165}. Note=The disease is caused by variants affecting the gene represented in this entry.
  • 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, ECO:0000269 PubMed:24172246}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for BCS1L

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with BCS1L: view

No data available for Genatlas for BCS1L Gene

Publications for BCS1L Gene

  1. Missense mutations in the BCS1L gene as a cause of the Björnstad syndrome. (PMID: 17314340) Hinson JT ā€¦ Seidman CE (The New England journal of medicine 2007) 2 3 4 23 74
  2. Impaired complex III assembly associated with BCS1L gene mutations in isolated mitochondrial encephalopathy. (PMID: 17403714) Fernandez-Vizarra E ā€¦ Zeviani M (Human molecular genetics 2007) 3 4 23 74
  3. GRACILE syndrome, a lethal metabolic disorder with iron overload, is caused by a point mutation in BCS1L. (PMID: 12215968) Visapää I ā€¦ Peltonen L (American journal of human genetics 2002) 3 4 23 74
  4. A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure. (PMID: 11528392) de Lonlay P ā€¦ Rötig A (Nature genetics 2001) 3 4 23 74
  5. Identification and characterization of human cDNAs specific to BCS1, PET112, SCO1, COX15, and COX11, five genes involved in the formation and function of the mitochondrial respiratory chain. (PMID: 9878253) Petruzzella V ā€¦ Zeviani M (Genomics 1998) 2 3 4

ExternalLinks

View latest publications for BCS1L gene in Mastermind

Products for BCS1L Gene

Sources for BCS1L Gene