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SURF1 Gene(Protein Coding)

SURF1, Cytochrome C Oxidase Assembly Factor

GCID:
GC09M133351
GIFtS:
48
Genes Participants
UDN Logo

Aliases for SURF1 Gene

Aliases for SURF1 Gene

  • SURF1, Cytochrome C Oxidase Assembly Factor 2 3 5
  • Surfeit Locus Protein 1 2 3
  • Surfeit 1 2 3
  • SURF-1 4
  • CMT4K 3

External Ids for SURF1 Gene

Previous GeneCards Identifiers for SURF1 Gene

  • GC09M127308
  • GC09M127775
  • GC09M129572
  • GC09M131494
  • GC09M133248
  • GC09M135208
  • GC09M136218
  • GC09M105718

Summaries for SURF1 Gene

Entrez Gene Summary for SURF1 Gene

  • This gene encodes a protein localized to the inner mitochondrial membrane and thought to be involved in the biogenesis of the cytochrome c oxidase complex. The protein is a member of the SURF1 family, which includes the related yeast protein SHY1 and rickettsial protein RP733. The gene is located in the surfeit gene cluster, a group of very tightly linked genes that do not share sequence similarity, where it shares a bidirectional promoter with SURF2 on the opposite strand. Defects in this gene are a cause of Leigh syndrome, a severe neurological disorder that is commonly associated with systemic cytochrome c oxidase deficiency. [provided by RefSeq, Jul 2008]

GeneCards Summary for SURF1 Gene

SURF1 (SURF1, Cytochrome C Oxidase Assembly Factor) is a Protein Coding gene. Diseases associated with SURF1 include Leigh Syndrome and Charcot-Marie-Tooth Disease, Type 4K. Among its related pathways are Gene Expression and Metabolism. Gene Ontology (GO) annotations related to this gene include cytochrome-c oxidase activity.

UniProtKB/Swiss-Prot for SURF1 Gene

  • Component of the MITRAC (mitochondrial translation regulation assembly intermediate of cytochrome c oxidase complex) complex, that regulates cytochrome c oxidase assembly.

Gene Wiki entry for SURF1 Gene

Additional gene information for SURF1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SURF1 Gene

Genomics for SURF1 Gene

Products:

  1. Regulatory Element

GeneHancer (GH) Regulatory Elements for SURF1 Gene

Promoters and enhancers for SURF1 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH09J133355 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 676.7 +0.1 149 2.3 HDGF PKNOX1 ATF1 SIN3A GLI4 ZNF2 ZBTB7B BRCA1 YY1 ETS1 SURF1 SURF2 MED22 SURF6 GC09P133444 PIR45308 SNORD36C
GH09J133416 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE 32.9 -61.3 -61301 3.5 CLOCK ZFP64 FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 REXO4 SURF1 SURF6 MED22 RPL7A GTF3C5 DDX31 BRD3OS ADAMTS13 CACFD1
GH09J133346 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 28.4 +7.9 7859 4.5 ZFP64 DMAP1 IRF4 YY1 SLC30A9 ZNF213 ZNF143 SP3 MEF2D SSRP1 RPL7A MED22 GC09P133386 GC09P133408 GC09P133439 GC09P133440 GC09P133443 GC09P133445 PIR63017 SNORD24
GH09J133420 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE 35 -64.6 -64558 2.3 HDGF PKNOX1 FOXA2 SMAD1 ARID4B BATF RAD21 ZNF207 ATF7 BCLAF1 ADAMTS13 SURF1 CACFD1 SURF2 RPL7A SNORD24 SNORD36A SNORD36B SNORD36C MED22
GH09J133333 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 23.6 +21.4 21393 4.2 CLOCK MLX DMAP1 IRF4 YY1 SLC30A9 E2F8 ZNF143 SP3 NFYC SURF6 GTF3C5 TSC1 WDR5 BRD3 DDX31 GTF3C4 TTF1 LOC100130548 SETX
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SURF1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SURF1 gene promoter:
  • FOXL1
  • Nkx2-5
  • ER-alpha
  • HTF
  • Pax-4a
  • Lmo2
  • HFH-3
  • FOXI1
  • HOXA5

Genomic Locations for SURF1 Gene

Genomic Locations for SURF1 Gene
chr9:133,351,755-133,356,676
(GRCh38/hg38)
Size:
4,922 bases
Orientation:
Minus strand
chr9:136,218,610-136,223,552
(GRCh37/hg19)
Size:
4,943 bases
Orientation:
Minus strand

Genomic View for SURF1 Gene

Genes around SURF1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SURF1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SURF1 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for SURF1 Gene

Proteins for SURF1 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for SURF1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q15526-SURF1_HUMAN
    Recommended name:
    Surfeit locus protein 1
    Protein Accession:
    Q15526
    Secondary Accessions:
    • Q5T8T3
    • Q5T8T4

    Protein attributes for SURF1 Gene

    Size:
    300 amino acids
    Molecular mass:
    33331 Da
    Quaternary structure:
    • Component of the MITRAC (mitochondrial translation regulation assembly intermediate of cytochrome c oxidase complex) complex, the core components of this complex being COA3/MITRAC12 and COX14. Interacts with COA3.

    Alternative splice isoforms for SURF1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SURF1 Gene

Protein Expression for SURF1 Gene

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

Post-translational modifications for SURF1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SURF1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for SURF1 Gene

Domains & Families for SURF1 Gene

Gene Families for SURF1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted membrane proteins

Protein Domains for SURF1 Gene

Blocks:
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SURF1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q15526

UniProtKB/Swiss-Prot:

SURF1_HUMAN :
  • Belongs to the SURF1 family.
Family:
  • Belongs to the SURF1 family.
genes like me logo Genes that share domains with SURF1: view

Function for SURF1 Gene

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  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Molecular function for SURF1 Gene

UniProtKB/Swiss-Prot Function:
Component of the MITRAC (mitochondrial translation regulation assembly intermediate of cytochrome c oxidase complex) complex, that regulates cytochrome c oxidase assembly.
GENATLAS Biochemistry:
surfeit 1 (see SURF@),homolog of SHY1,yeast mitochondrial protein,member of a cluster of housekeeping gene,putatively involved in the assembly or maintenance of an active cytochrome oxidase complex,ubiquitously expressed,located in tightly bound to the mitochondrial inner membrane

Phenotypes From GWAS Catalog for SURF1 Gene

Gene Ontology (GO) - Molecular Function for SURF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004129 cytochrome-c oxidase activity IEA --
GO:0005515 protein binding IPI 23260140
genes like me logo Genes that share ontologies with SURF1: view
genes like me logo Genes that share phenotypes with SURF1: view

Human Phenotype Ontology for SURF1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SURF1 Gene

MGI Knock Outs for SURF1:

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targets and HOMER Transcription for SURF1 Gene

Localization for SURF1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SURF1 Gene

Mitochondrion inner membrane; Multi-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 SURF1 gene
Compartment Confidence
mitochondrion 5
nucleus 2
cytosol 2
plasma membrane 1
extracellular 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for SURF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA --
GO:0005743 mitochondrial inner membrane IEA --
GO:0005746 mitochondrial respiratory chain TAS 9843204
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with SURF1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SURF1 Gene

Pathways & Interactions for SURF1 Gene

genes like me logo Genes that share pathways with SURF1: view

Gene Ontology (GO) - Biological Process for SURF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006119 oxidative phosphorylation IMP 20888800
GO:0006754 ATP biosynthetic process IMP 20888800
GO:0008535 respiratory chain complex IV assembly TAS 9843204
GO:0009060 aerobic respiration TAS 9843204
GO:0022900 electron transport chain IEA --
genes like me logo Genes that share ontologies with SURF1: view

No data available for SIGNOR curated interactions for SURF1 Gene

Drugs & Compounds for SURF1 Gene

Products:

  1. Drug

(2) Drugs for SURF1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(2) Additional Compounds for SURF1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with SURF1: view

Transcripts for SURF1 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for SURF1 Gene

(3) REFSEQ mRNAs :
(4) Additional mRNA sequences :
(1147) Selected AceView cDNA sequences:
(5) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for SURF1 Gene

Surfeit 1:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for SURF1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b ^ 8a · 8b ^ 9 ^ 10a · 10b
SP1: -
SP2:
SP3: - -
SP4:

Relevant External Links for SURF1 Gene

GeneLoc Exon Structure for
SURF1
ECgene alternative splicing isoforms for
SURF1

Expression for SURF1 Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SURF1 Gene

mRNA expression in normal human tissues for SURF1 Gene
mRNA expression by GTEx for SURF1 GenemRNA expression by BioGPS for SURF1 Gene

Protein differential expression in normal tissues from HIPED for SURF1 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (14.3) and Bone (8.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for SURF1 Gene



Protein tissue co-expression partners for SURF1 Gene

NURSA nuclear receptor signaling pathways regulating expression of SURF1 Gene:

SURF1

SOURCE GeneReport for Unigene cluster for SURF1 Gene:

Hs.512464

Evidence on tissue expression from TISSUES for SURF1 Gene

  • Kidney(4.3)
  • Skin(4.3)
  • Stomach(4.3)
  • Intestine(4.2)
  • Muscle(2.6)
  • Nervous system(2.4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for SURF1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
Regions:
Head and neck:
  • brain
  • cerebellum
  • cerebrospinal fluid
  • cranial nerve
  • eye
  • eyelid
  • face
  • head
  • meninges
  • neck
Thorax:
  • lung
Abdomen:
  • liver
General:
  • hair
  • peripheral nervous system
  • skin
  • spinal cord
genes like me logo Genes that share expression patterns with SURF1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for SURF1 Gene

Orthologs for SURF1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for SURF1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia SURF1 34 33
  • 99 (n)
 OneToOne
dog
(Canis familiaris)
 Mammalia SURF1 34 33
  • 88.24 (n)
 OneToOne
cow
(Bos Taurus)
 Mammalia SURF1 34 33
  • 84.81 (n)
 OneToOne
rat
(Rattus norvegicus)
 Mammalia LOC100912008 33
  • 79.75 (n)
mouse
(Mus musculus)
 Mammalia Surf1 16 34 33
  • 79.69 (n)
oppossum
(Monodelphis domestica)
 Mammalia SURF1 34
  • 72 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia SURF1 34
  • 48 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves SURF1 34 33
  • 69.93 (n)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia SURF1 34
  • 22 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia surf1 33
  • 68.27 (n)
African clawed frog
(Xenopus laevis)
 Amphibia Xl.23733 33
zebrafish
(Danio rerio)
 Actinopterygii surf1 34 33
  • 64.06 (n)
 OneToOne
Dr.14568 33
rainbow trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.7095 33
fruit fly
(Drosophila melanogaster)
 Insecta Surf1 34 35 33
  • 53.23 (n)
 OneToOne
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP006533 33
  • 50.13 (n)
worm
(Caenorhabditis elegans)
 Secernentea sft-1 34 35 33
  • 49.27 (n)
 OneToOne
baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes SHY1 36 34
  • 22 (a)
thale cress
(Arabidopsis thaliana)
 eudicotyledons SURF1 33
  • 47.66 (n)
rice
(Oryza sativa)
 Liliopsida Os03g0200700 33
  • 46.79 (n)
Species where no ortholog for SURF1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • 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)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SURF1 Gene

ENSEMBL:
Gene Tree for SURF1 (if available)
TreeFam:
Gene Tree for SURF1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SURF1: view image

Paralogs for SURF1 Gene

No data available for Paralogs for SURF1 Gene

Variants for SURF1 Gene

Products:

  1. SNP Genotyping and Copy Number Assay

Sequence variations from dbSNP and Humsavar for SURF1 Gene

SNP ID Clin Chr 09 pos Variation AA Info Type
rs1047748862 uncertain-significance, Leigh syndrome 133,353,898(-) G/A coding_sequence_variant, synonymous_variant
rs116779216 benign, not specified, not provided, Leigh syndrome 133,354,897(-) G/A/C 5_prime_UTR_variant, coding_sequence_variant, missense_variant
rs121918657 pathogenic, Leigh syndrome due to mitochondrial complex IV deficiency 133,352,446(-) G/A coding_sequence_variant, stop_gained
rs121918658 pathogenic, Leigh syndrome due to mitochondrial complex IV deficiency, Leigh syndrome (LS) [MIM:256000] 133,352,074(-) A/C coding_sequence_variant, missense_variant
rs145088629 likely-benign, Leigh syndrome 133,351,937(-) G/A coding_sequence_variant, synonymous_variant

Structural Variations from Database of Genomic Variants (DGV) for SURF1 Gene

Variant ID Type Subtype PubMed ID
esv2739138 CNV deletion 23290073
nsv1125319 OTHER inversion 24896259

Variation tolerance for SURF1 Gene

Residual Variation Intolerance Score: 45.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.82; 58.49% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SURF1 Gene

Human Gene Mutation Database (HGMD)
SURF1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SURF1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SURF1 Gene

Disorders for SURF1 Gene

MalaCards: The human disease database

(13) MalaCards diseases for SURF1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
leigh syndrome
  • ls
charcot-marie-tooth disease, type 4k
  • cmt4k
polyglucosan body myopathy 1 with or without immunodeficiency
  • pgbm1
aceruloplasminemia
  • hypoceruloplasminemia, hereditary
leigh syndrome with leukodystrophy
  • infantile subacute necrotizing encephalopathy with leukodystrophy
- elite association - COSMIC cancer census association via MalaCards
Search SURF1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

SURF1_HUMAN
  • Leigh syndrome (LS) [MIM:256000]: An early-onset progressive neurodegenerative disorder characterized by the presence of focal, bilateral lesions in one or more areas of the central nervous system including the brainstem, thalamus, basal ganglia, cerebellum and spinal cord. Clinical features depend on which areas of the central nervous system are involved and include subacute onset of psychomotor retardation, hypotonia, ataxia, weakness, vision loss, eye movement abnormalities, seizures, and dysphagia. {ECO:0000269 PubMed:10647889, ECO:0000269 PubMed:10746561, ECO:0000269 PubMed:14564068, ECO:0000269 PubMed:21937992, ECO:0000269 PubMed:22410471, ECO:0000269 PubMed:22488715, ECO:0000269 PubMed:9843204}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Charcot-Marie-Tooth disease 4K (CMT4K) [MIM:616684]: An autosomal recessive, demyelinating form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Demyelinating neuropathies are characterized by severely reduced nerve conduction velocities (less than 38 m/sec), segmental demyelination and remyelination with onion bulb formations on nerve biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow feet. By convention autosomal recessive forms of demyelinating Charcot-Marie-Tooth disease are designated CMT4. CMT4K patients manifest upper and lower limbs involvement. Some affected individuals have nystagmus and late-onset cerebellar ataxia. {ECO:0000269 PubMed:24027061}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for SURF1 Gene

subacute necrotizing encephalopathy Leigh syndrome characterized by lactate acidosis,bilaterally symmetrical necrotic lesions in the brainstem,basal ganglia,thalamus and spinal cord,occuring predominantly in infants and associated with a systemic deficit in cytochrome c oxidase

Additional Disease Information for SURF1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with SURF1: view

Publications for SURF1 Gene

  1. Mutations in the SURF1 gene associated with Leigh syndrome and cytochrome C oxidase deficiency. (PMID: 11317352) Péquignot MO … Marsac C (Human mutation 2001) 3 4 22 44 58
  2. Missense mutations in SURF1 associated with deficient cytochrome c oxidase assembly in Leigh syndrome patients. (PMID: 10746561) Poyau A … Godinot C (Human genetics 2000) 3 4 22 44 58
  3. SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome. (PMID: 9843204) Zhu Z … Shoubridge EA (Nature genetics 1998) 2 3 4 22 58
  4. High prevalence of SURF1 c.845_846delCT mutation in Polish Leigh patients. (PMID: 18583168) Piekutowska-Abramczuk D … Pronicka E (European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2009) 3 22 44 58
  5. Two novel mutations of SURF1 in Leigh syndrome with cytochrome c oxidase deficiency. (PMID: 10647889) Teraoka M … Seino Y (Human genetics 1999) 3 4 22 58

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