This translocase is involved in the import and insertion of hydrophobic membrane proteins from the cytoplasm into the mitochondrial inner membrane. The gene is mutated in Mohr-Tranebjaerg syndrome/Deafness Dystonia Syndrome (MTS/DDS) and it is postulated that MTS/DDS is a mitochondrial disease caused by a defective mitochondrial protein import system. Defects in this gene also ... See more...

Aliases for TIMM8A Gene

Aliases for TIMM8A Gene

  • Translocase Of Inner Mitochondrial Membrane 8A 2 3 5
  • DDP 2 3 4
  • Mitochondrial Import Inner Membrane Translocase Subunit Tim8 A 3 4
  • X-Linked Deafness Dystonia Protein 3 4
  • Deafness Dystonia Protein 1 3 4
  • DDP1 3 4
  • MTS 2 3
  • Translocase Of Inner Mitochondrial Membrane 8 (Yeast) Homolog A 2
  • Translocase Of Inner Mitochondrial Membrane 8 Homolog A (Yeast) 2
  • Translocase Of Inner Mitochondrial Membrane 8 Homolog A 3
  • Deafness/Dystonia Peptide 3
  • TIMM8A 5
  • TIM8A 4
  • DFN1 3
  • TIM8 3

External Ids for TIMM8A Gene

Previous HGNC Symbols for TIMM8A Gene

  • DFN1

Previous GeneCards Identifiers for TIMM8A Gene

  • GC0XM095892
  • GC0XM097571
  • GC0XM098636
  • GC0XM099372
  • GC0XM100406
  • GC0XM100488
  • GC0XM100600
  • GC0XM090406
  • GC0XM101320

Summaries for TIMM8A Gene

Entrez Gene Summary for TIMM8A Gene

  • This translocase is involved in the import and insertion of hydrophobic membrane proteins from the cytoplasm into the mitochondrial inner membrane. The gene is mutated in Mohr-Tranebjaerg syndrome/Deafness Dystonia Syndrome (MTS/DDS) and it is postulated that MTS/DDS is a mitochondrial disease caused by a defective mitochondrial protein import system. Defects in this gene also cause Jensen syndrome; an X-linked disease with opticoacoustic nerve atrophy and muscle weakness. This protein, along with TIMM13, forms a 70 kDa heterohexamer. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Mar 2009]

GeneCards Summary for TIMM8A Gene

TIMM8A (Translocase Of Inner Mitochondrial Membrane 8A) is a Protein Coding gene. Diseases associated with TIMM8A include Mohr-Tranebjaerg Syndrome and Focal Dystonia. Among its related pathways are Mitochondrial protein import and Metabolism of proteins. An important paralog of this gene is TIMM8B.

UniProtKB/Swiss-Prot Summary for TIMM8A Gene

  • Mitochondrial intermembrane chaperone that participates in the import and insertion of some multi-pass transmembrane proteins into the mitochondrial inner membrane. Also required for the transfer of beta-barrel precursors from the TOM complex to the sorting and assembly machinery (SAM complex) of the outer membrane. Acts as a chaperone-like protein that protects the hydrophobic precursors from aggregation and guide them through the mitochondrial intermembrane space. The TIMM8-TIMM13 complex mediates the import of proteins such as TIMM23, SLC25A12/ARALAR1 and SLC25A13/ARALAR2, while the predominant TIMM9-TIMM10 70 kDa complex mediates the import of much more proteins. Probably necessary for normal neurologic development.

Gene Wiki entry for TIMM8A Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TIMM8A Gene

Genomics for TIMM8A Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for TIMM8A 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
GH0XJ101346 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 250.7 +0.6 618 3.4 BCLAF1 MYC ZNF600 POLR2A CEBPA NFIC MXD4 REST CEBPB SMAD5 HSALNG0139205 TIMM8A piR-58450-002 ARMCX4 BTK RPL36A BEX5 lnc-BTK-1 TAF7L
GH0XJ101383 Promoter/Enhancer 1.7 EPDnew FANTOM5 Ensembl ENCODE 0.3 -36.5 -36538 3.8 MYC NCOR1 IKZF1 POLR2A SMAD5 TRIM22 MBD2 MNT NBN IRF4 BTK lnc-ARMCX4-3 lnc-BTK-1 ARMCX4 ARL13A GLA BEX5 ARMCX3 TIMM8A
GH0XJ101363 Enhancer 0.4 Ensembl 0.4 -14.5 -14459 0.4 TAL1 ARID1B SOX6 CBFA2T3 BEX5 RF00017-7969 TIMM8A RF00017-7970 lnc-BTK-1 BTK
GH0XJ101369 Enhancer 0.3 Ensembl 0.4 -20.0 -19959 0.2 ZNF664 HLF BTK RPL36A RF00017-7969 RF00017-7970 TIMM8A lnc-BTK-1
GH0XJ101357 Enhancer 0.3 Ensembl 0.4 -8.7 -8662 0.4 CTCF RF00017-7969 lnc-TIMM8A-1 TIMM8A lnc-BTK-1 BTK
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TIMM8A on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TIMM8A

Top Transcription factor binding sites by QIAGEN in the TIMM8A gene promoter:
  • E47
  • NRSF form 1
  • NRSF form 2
  • p53
  • POU3F2
  • POU3F2 (N-Oct-5a)
  • POU3F2 (N-Oct-5b)

Genomic Locations for TIMM8A Gene

Latest Assembly
chrX:101,345,661-101,348,742
(GRCh38/hg38)
Size:
3,082 bases
Orientation:
Minus strand

Previous Assembly
chrX:100,600,649-100,603,730
(GRCh37/hg19 by Entrez Gene)
Size:
3,082 bases
Orientation:
Minus strand

chrX:100,600,649-100,604,184
(GRCh37/hg19 by Ensembl)
Size:
3,536 bases
Orientation:
Minus strand

Genomic View for TIMM8A Gene

Genes around TIMM8A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TIMM8A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TIMM8A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TIMM8A Gene

Proteins for TIMM8A Gene

  • Protein details for TIMM8A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O60220-TIM8A_HUMAN
    Recommended name:
    Mitochondrial import inner membrane translocase subunit Tim8 A
    Protein Accession:
    O60220
    Secondary Accessions:
    • B2R5A6
    • Q6IRW6

    Protein attributes for TIMM8A Gene

    Size:
    97 amino acids
    Molecular mass:
    10998 Da
    Quaternary structure:
    • Heterohexamer; composed of 3 copies of TIMM8A and 3 copies of TIMM13, named soluble 70 kDa complex. Associates with the TIM22 complex, whose core is composed of TIMM22.

neXtProt entry for TIMM8A Gene

Post-translational modifications for TIMM8A Gene

  • Ubiquitination at Lys86 and Lys88
  • Modification sites at PhosphoSitePlus

Other Protein References for TIMM8A Gene

Antibodies for research

  • Abcam antibodies for TIMM8A
  • Santa Cruz Biotechnology (SCBT) Antibodies for TIMM8A

No data available for DME Specific Peptides for TIMM8A Gene

Domains & Families for TIMM8A Gene

Gene Families for TIMM8A Gene

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

Protein Domains for TIMM8A Gene

InterPro:
Blocks:
  • Zn-finger, Tim10/DDP type

Suggested Antigen Peptide Sequences for TIMM8A Gene

GenScript: Design optimal peptide antigens:
  • X-linked deafness dystonia protein (TIM8A_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O60220

UniProtKB/Swiss-Prot:

TIM8A_HUMAN :
  • The twin CX3C motif contains 4 conserved Cys residues that form 2 disulfide bonds in the mitochondrial intermembrane space. However, during the transit of TIMM8A from cytoplasm into mitochondrion, the Cys residues probably coordinate zinc, thereby preventing folding and allowing its transfer across mitochondrial outer membrane (By similarity).
  • Belongs to the small Tim family.
Domain:
  • The twin CX3C motif contains 4 conserved Cys residues that form 2 disulfide bonds in the mitochondrial intermembrane space. However, during the transit of TIMM8A from cytoplasm into mitochondrion, the Cys residues probably coordinate zinc, thereby preventing folding and allowing its transfer across mitochondrial outer membrane (By similarity).
Family:
  • Belongs to the small Tim family.
genes like me logo Genes that share domains with TIMM8A: view

Function for TIMM8A Gene

Molecular function for TIMM8A Gene

UniProtKB/Swiss-Prot Function:
Mitochondrial intermembrane chaperone that participates in the import and insertion of some multi-pass transmembrane proteins into the mitochondrial inner membrane. Also required for the transfer of beta-barrel precursors from the TOM complex to the sorting and assembly machinery (SAM complex) of the outer membrane. Acts as a chaperone-like protein that protects the hydrophobic precursors from aggregation and guide them through the mitochondrial intermembrane space. The TIMM8-TIMM13 complex mediates the import of proteins such as TIMM23, SLC25A12/ARALAR1 and SLC25A13/ARALAR2, while the predominant TIMM9-TIMM10 70 kDa complex mediates the import of much more proteins. Probably necessary for normal neurologic development.
GENATLAS Biochemistry:
translocase of inner mitochondrial protein 8 (yeast) homolog A,ubiquitously expressed,highly in the fetal brain,involved in neurological development,paralog of TIM8B,S cerevisiae Tim8p ortholog,component of the TIM complex

Gene Ontology (GO) - Molecular Function for TIMM8A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 11956200
GO:0042802 identical protein binding IPI 11956200
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with TIMM8A: view
genes like me logo Genes that share phenotypes with TIMM8A: view

Human Phenotype Ontology for TIMM8A Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

miRNA for TIMM8A Gene

miRTarBase miRNAs that target TIMM8A

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TIMM8A

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Animal Models , Transcription Factor Targets and HOMER Transcription for TIMM8A Gene

Localization for TIMM8A Gene

Subcellular locations from UniProtKB/Swiss-Prot for TIMM8A Gene

Mitochondrion inner membrane. Peripheral membrane protein. Intermembrane side.

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 TIMM8A gene
Compartment Confidence
mitochondrion 5
cytosol 3
extracellular 2
nucleus 2
plasma membrane 1
cytoskeleton 1
peroxisome 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for TIMM8A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA,IDA --
GO:0005743 mitochondrial inner membrane IEA --
GO:0005758 mitochondrial intermembrane space IEA,IDA 14726512
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with TIMM8A: view

Pathways & Interactions for TIMM8A Gene

PathCards logo

SuperPathways for TIMM8A Gene

genes like me logo Genes that share pathways with TIMM8A: view

Pathways by source for TIMM8A Gene

2 Reactome pathways for TIMM8A Gene

Gene Ontology (GO) - Biological Process for TIMM8A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007399 nervous system development TAS 8841189
GO:0015031 protein transport IEA --
GO:0072321 chaperone-mediated protein transport IEA,TAS 16387659
genes like me logo Genes that share ontologies with TIMM8A: view

No data available for SIGNOR curated interactions for TIMM8A Gene

Drugs & Compounds for TIMM8A Gene

(1) Drugs for TIMM8A Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with TIMM8A: view

Transcripts for TIMM8A Gene

mRNA/cDNA for TIMM8A Gene

3 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
4 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 TIMM8A

Alternative Splicing Database (ASD) splice patterns (SP) for TIMM8A Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3a · 3b
SP1: -
SP2:
SP3: - -

Relevant External Links for TIMM8A Gene

GeneLoc Exon Structure for
TIMM8A

Expression for TIMM8A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for TIMM8A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for TIMM8A Gene



Protein tissue co-expression partners for TIMM8A Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TIMM8A

SOURCE GeneReport for Unigene cluster for TIMM8A Gene:

Hs.447877

mRNA Expression by UniProt/SwissProt for TIMM8A Gene:

O60220-TIM8A_HUMAN
Tissue specificity: Highly expressed in fetal and adult brain, followed by fetal lung, liver and kidney. Also expressed in heart, placenta, lung, liver, kidney, pancreas, skeletal muscle and heart.

Evidence on tissue expression from TISSUES for TIMM8A Gene

  • Nervous system(4.5)
  • Liver(4.5)
  • Kidney(4.4)
  • Heart(2.2)
  • Muscle(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for TIMM8A Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • nervous
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cranial nerve
  • ear
  • eye
  • head
  • inner ear
  • mouth
  • pharynx
Thorax:
  • esophagus
Abdomen:
  • stomach
General:
  • peripheral nervous system
  • spinal cord
genes like me logo Genes that share expression patterns with TIMM8A: view

Primer products for research

No data available for mRNA differential expression in normal tissues and Protein differential expression in normal tissues for TIMM8A Gene

Orthologs for TIMM8A Gene

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

Orthologs for TIMM8A Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia TIMM8A 29 30
  • 100 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia TIMM8A 29 30
  • 95.53 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Gm9797 30
  • 95 (a)
OneToMany
Timm8a1 29 16 30
  • 90.72 (n)
OneToMany
Timm8a2 30
  • 74 (a)
OneToMany
Cow
(Bos Taurus)
Mammalia TIMM8A 29 30
  • 94.85 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia -- 30
  • 93 (a)
OneToMany
-- 30
  • 83 (a)
OneToMany
-- 30
  • 70 (a)
OneToMany
Rat
(Rattus norvegicus)
Mammalia Timm8a1 29
  • 90.38 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia TIMM8A 30
  • 90 (a)
OneToOne
Chicken
(Gallus gallus)
Aves TIMM8A 29 30
  • 80.9 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia TIMM8A 30
  • 89 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia timm8a 29
  • 69.8 (n)
Str.15448 29
African clawed frog
(Xenopus laevis)
Amphibia Xl.5563 29
Zebrafish
(Danio rerio)
Actinopterygii timm8a 29 30
  • 74.21 (n)
OneToOne
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10276 29
Worm
(Caenorhabditis elegans)
Secernentea ddp-1 30
  • 40 (a)
OneToOne
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes TIM8 30 32
  • 37 (a)
OneToMany
Species where no ortholog for TIMM8A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • Fruit Fly (Drosophila melanogaster)
  • 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 (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • 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 TIMM8A Gene

ENSEMBL:
Gene Tree for TIMM8A (if available)
TreeFam:
Gene Tree for TIMM8A (if available)
Aminode:
Evolutionary constrained regions (ECRs) for TIMM8A: view image
Alliance of Genome Resources:
Additional Orthologs for TIMM8A

Paralogs for TIMM8A Gene

Paralogs for TIMM8A Gene

(2) SIMAP similar genes for TIMM8A Gene using alignment to 1 proteins:

  • TIM8A_HUMAN

Pseudogenes.org Pseudogenes for TIMM8A Gene

genes like me logo Genes that share paralogs with TIMM8A: view

Variants for TIMM8A Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TIMM8A Gene

SNP ID Clinical significance and condition Chr 0X pos Variation AA Info Type
940697 Uncertain Significance: not provided 101,346,662(-) T/C
NM_004085.4(TIMM8A):c.133-2A>G
SPLICE_ACCEPTOR_VARIANT,THREE_PRIME_UTR
987116 Pathogenic: not provided 101,346,661(-) C/A
NM_004085.4(TIMM8A):c.133-1G>T
SPLICE_ACCEPTOR_VARIANT,THREE_PRIME_UTR
rs1054894 Pathogenic: Deafness dystonia syndrome 101,346,555(-) G/A
NM_004085.4(TIMM8A):c.238C>T (p.Arg80Ter)
NONSENSE,THREE_PRIME_UTR
rs111033631 Pathogenic: Deafness dystonia syndrome 101,348,595(-) C/A
NM_004085.4(TIMM8A):c.70G>T (p.Glu24Ter)
NONSENSE
rs143860818 Benign: not provided 101,348,575(-) C/T
NM_004085.4(TIMM8A):c.90G>A (p.Gln30=)
SYNONYMOUS

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for TIMM8A Gene

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

Structural Variations from Database of Genomic Variants (DGV) for TIMM8A Gene

Variant ID Type Subtype PubMed ID
nsv524411 CNV loss 19592680

Variation tolerance for TIMM8A Gene

Residual Variation Intolerance Score: 44.1% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TIMM8A Gene

Human Gene Mutation Database (HGMD)
TIMM8A
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TIMM8A
Leiden Open Variation Database (LOVD)
TIMM8A

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TIMM8A Gene

Disorders for TIMM8A Gene

MalaCards: The human disease database

(26) MalaCards diseases for TIMM8A Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

Disorder Aliases PubMed IDs
mohr-tranebjaerg syndrome
  • mts
focal dystonia
  • dystonia, focal, task-specific
dystonia
  • dystonic disease
blepharospasm
cortical blindness
  • blindness, cortical
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

TIM8A_HUMAN
  • Mohr-Tranebjaerg syndrome (MTS) [MIM:304700]: An X-linked recessive disorder characterized by postlingual sensorineural deafness with onset in early childhood, dystonia, spasticity, dysphagia, mental deterioration, paranoia and cortical blindness. {ECO:0000269 PubMed:10878669, ECO:0000269 PubMed:11803487, ECO:0000269 PubMed:11875042, ECO:0000269 PubMed:11956200}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for TIMM8A

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 TIMM8A: view

No data available for Genatlas for TIMM8A Gene

Publications for TIMM8A Gene

  1. A novel X-linked gene, DDP, shows mutations in families with deafness (DFN-1), dystonia, mental deficiency and blindness. (PMID: 8841189) Jin H … Vetrie D (Nature genetics 1996) 2 3 4 22 72
  2. The calcium-binding aspartate/glutamate carriers, citrin and aralar1, are new substrates for the DDP1/TIMM8a-TIMM13 complex. (PMID: 15254020) Roesch K … Koehler CM (Human molecular genetics 2004) 3 4 22
  3. The C66W mutation in the deafness dystonia peptide 1 (DDP1) affects the formation of functional DDP1.TIM13 complexes in the mitochondrial intermembrane space. (PMID: 11956200) Hofmann S … Bauer MF (The Journal of biological chemistry 2002) 3 4 72
  4. Role of the deafness dystonia peptide 1 (DDP1) in import of human Tim23 into the inner membrane of mitochondria. (PMID: 11489896) Rothbauer U … Bauer MF (The Journal of biological chemistry 2001) 3 4 22
  5. Neuronal cell death in the visual cortex is a prominent feature of the X-linked recessive mitochondrial deafness-dystonia syndrome caused by mutations in the TIMM8a gene. (PMID: 11803487) Tranebjaerg L … Skullerud K (Ophthalmic genetics 2001) 3 4 22

Products for TIMM8A Gene

Sources for TIMM8A Gene