TIMM8A Gene
protein-coding GIFtS: 62
GCID: GC0XM100600
|
|
translocase of inner mitochondrial membrane 8 homolog A...(Previous name: translocase of inner mitochondrial membrane 8 (yeast) homolog...)
(Previous symbol: DFN1)
| |
Aliases
for TIMM8A gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Translocase Of Inner Mitochondrial Membrane 8 Homolog A (Yeast)1 2 | | X-Linked Deafness Dystonia Protein2 3 | | DDP1 2 3 5 | | Translocase Of Inner Mitochondrial Membrane 8 (Yeast) Homolog A1 | | DFN11 2 5 | | TIM82 | | MTS1 2 5 | | Deafness/Dystonia Peptide2 | | DDP12 3 5 | | Mitochondrial Import Inner Membrane Translocase Subunit Tim8 A2 | | Deafness Dystonia Protein 12 3 | | TIM8A3 |
Export aliases for TIMM8A gene to outside databasesPrevious GC identifers: GC0XM095892 GC0XM097571 GC0XM098636 GC0XM099372 GC0XM100406 GC0XM100488 GC0XM090406 |
Summaries
for TIMM8A gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for TIMM8A:
This translocase is involved in the import and insertion of hydrophobic membrane proteins from the cytoplasm into themitochondrial 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 importsystem. Defects in this gene also cause Jensen syndrome; an X-linked disease with opticoacoustic nerve atrophy andmuscle weakness. This protein, along with TIMM13, forms a 70 kDa heterohexamer. Alternative splicing results inmultiple transcript variants encoding distinct isoforms.(provided by RefSeq, Mar 2009)
UniProtKB/Swiss-Prot: TIM8A_HUMAN, O60220Function: Mitochondrial intermembrane chaperone that participates in the import and insertion of some multi-passtransmembrane proteins into the mitochondrial inner membrane. Also required for the transfer of beta-barrel precursorsfrom the TOM complex to the sorting and assembly machinery (SAM complex) of the outer membrane. Acts as achaperone-like protein that protects the hydrophobic precursors from aggregation and guide them through themitochondrial 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 muchmore proteins. Probably necessary for normal neurologic development
Gene Wiki entry for TIMM8A
|
Genomic Views
for TIMM8A gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000023.10 NC_018934.1 NT_011651.17
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the TIMM8A gene promoter:
p53 NRSF form 1 POU3F2 (N-Oct-5b) POU3F2 (N-Oct-5a) POU3F2 NRSF form 2 E47
Other transcription factors
Search SABiosciences Chromatin IP Primers for TIMM8A
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TIMM8A |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: Xq22.1 Ensembl cytogenetic band: Xq22.1 HGNC cytogenetic band: Xq22TIMM8A Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome X GeneLoc Exon Structure GeneLoc location for GC0XM100600: view genomic region
(about GC identifiers)
Start:
|
100,600,644 bp from pter |
End:
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100,604,184 bp from pter |
Size:
|
3,541 bases |
Orientation:
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minus strand |
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Proteins
for TIMM8A gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: TIM8A_HUMAN, O60220 (See
protein sequence)Recommended Name: Mitochondrial import inner membrane translocase subunit Tim8 A Size: 97 amino acids; 10998 Da
Subunit: Heterohexamer; composed of 3 copies of TIMM8A and 3 copies of TIMM13, named soluble 70 kDa complex. Associateswith the TIM22 complex, whose core is composed of TIMM22
Subcellular location: Mitochondrion inner membrane; Peripheral membrane protein; Intermembrane side
Secondary accessions: B2R5A6 Q6IRW6Explore the universe of human proteins at neXtProt for TIMM8A: NX_O60220
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_O60220
TIMM8A Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins (2 alternative transcripts):
NP_001139423.1 NP_004076.1
ENSEMBL proteins: ENSP00000361993 Reactome Protein details: O60220
Human Recombinant Protein Products for TIMM8A:
Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0005739 | mitochondrion |
IDA | -- | | GO:0005743 | mitochondrial inner membrane |
IEA | -- | | GO:0005758 | mitochondrial intermembrane space |
IDA | 14726512 | | GO:0042719 | mitochondrial intermembrane space protein transporter complex |
IEA | -- |
TIMM8A for ontologies About GeneDecksing
TIMM8A Antibody Products:
Assay Products for TIMM8A: |
Protein
Domains /
Families
for TIMM8A gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
TIMM8A for domains About GeneDecksing
1 InterPro domain/family:Graphical View of Domain Structure for InterPro Entry O60220ProtoNet protein and cluster: O60220 1 Blocks protein family: IPB004217 Zn-finger
UniProtKB/Swiss-Prot: TIM8A_HUMAN, O60220Domain: The twin CX3C motif contains 4 conserved Cys residues that form 2 disulfide bonds in the mitochondrialintermembrane space. However, during the transit of TIMM8A from cytoplasm into mitochondrion, the Cys residuesprobably coordinate zinc, thereby preventing folding and allowing its transfer across mitochondrial outer membrane (Bysimilarity)Similarity: Belongs to the small Tim family |
Function
for TIMM8A gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
inGenious Targeting Laboratory,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase,
shRNA from
OriGene,
Sirion Biotech,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Sirion Biotech,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
Sirion Biotech,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Molecular Function:
UniProtKB/Swiss-Prot Summary: TIM8A_HUMAN, O60220Function: Mitochondrial intermembrane chaperone that participates in the import and insertion of some multi-passtransmembrane proteins into the mitochondrial inner membrane. Also required for the transfer of beta-barrel precursorsfrom the TOM complex to the sorting and assembly machinery (SAM complex) of the outer membrane. Acts as achaperone-like protein that protects the hydrophobic precursors from aggregation and guide them through themitochondrial 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 muchmore proteins. Probably necessary for normal neurologic development Genatlas biochemistry entry for TIMM8A:translocase of inner mitochondrial protein 8 (yeast) homolog A,ubiquitously expressed,highly in the fetalbrain,involved in neurological development,paralog of TIM8B,S cerevisiae Tim8p ortholog,component of the TIM complex
Gene Ontology (GO): 1 molecular function term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0046872 | metal ion binding |
IEA | -- |
TIMM8A for ontologies About GeneDecksing
Phenotypes:
1 GenomeRNAi human phenotype for TIMM8A:
Animal Models:
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for TIMM8A (see all 4)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for TIMM8A (see all 2)
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector (see all 2): TIMM8A (NM_004085) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for TIMM8A | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TIMM8A |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TIMM8A |
|
Pathways & Interactions
for TIMM8A gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Unified GeneCards pathways About this table
See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | Mitochondrial Protein Import | | | 2 | Asparagine N-linked glycosylation | |
Pathway sources
See GeneCards unified pathways
Show all pathways
2 
Reactome Pathways for TIMM8A
TIMM8A for pathways About GeneDecksing
Interactions:
SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for TIMM8A
STRING Interaction
Network Preview (showing 5 interactants - click image to see 13)
5/13 Interacting proteins for TIMM8A (O602202, 3 ENSP000003619934) via UniProtKB, MINT, STRING, and/or I2D (see all 13)About this table
Gene Ontology (GO): 5 biological process terms (GO ID links to tree view): About this table
TIMM8A for ontologies About GeneDecksing
|
Drugs & Compounds
for TIMM8A gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
TIMM8A for compounds About GeneDecksing
 Browse Tocris compounds for TIMM8A
1 Novoseek chemical compound relationship for TIMM8A gene About this table
| Compound |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| tyrosine |
1.98 |
2 |
17520285 (1), 10873677 (1) |
Search CenterWatch for drugs/clinical trials and news about TIMM8A / TIM8A
|
Transcripts
for TIMM8A gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
Sirion Biotech,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for TIMM8A gene (3 alternative transcripts): NM_001145951.1 NM_004085.3 NM_032696.1 Unigene Cluster for TIMM8A: Translocase of inner mitochondrial membrane 8 homolog A (yeast) Hs.447877 [show with all ESTs]Unigene Representative Sequence: NM_0040852 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000372902(uc004ehd.2) ENST00000480575(uc011mri.2)
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for TIMM8A (see all 4)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for TIMM8A (see all 2)
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector (see all 2): TIMM8A (NM_004085) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for TIMM8A | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TIMM8A |
Additional cDNA sequence: AK312117.1 BC006994.1 BC015093.1 BC070284.1 U66035.1 7 DOTS entries: DT.410389 DT.97837320 DT.99998962 DT.121303092 DT.40288453 DT.91922310 DT.97817214 24/108 AceView cDNA sequences (see all 108): AW070273 BE783062 CF529632 BU176830 BM996400 AA974588 CF529740 AA643765 AA884254 BU857750 AI193723 BX956216 BU181473 CF529628 CD370119 BQ013940 AA279264 BQ013177 AI476520 BG575927 BC015093 BU621894 BX283098 U01922
GeneLoc Exon Structure
3 Alternative Splicing Database (ASD) splice patterns (SP) for TIMM8A About this scheme
| ExUns: | 1a | · | 1b | · | 1c | · | 1d | ^ | 2 | ^ | 3a | · | 3b |
|---|
|
| SP1: | | | | | | | | | - | | | | | | |
| SP2: | | | | | | | | | | | | | | | |
| SP3: | | | | | | | - | | - | | | | | |
ECgene alternative splicing isoforms for TIMM8A
|
Expression
for TIMM8A gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| TIMM8A expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CCTAATGTTA
About this image
See TIMM8A Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for TIMM8A
SOURCE GeneReport for Unigene cluster: Hs.447877
UniProtKB/Swiss-Prot: TIM8A_HUMAN, O60220Tissue specificity: Highly expressed in fetal and adult brain, followed by fetal lung, liver and kidney. Also expressedin heart, placenta, lung, liver, kidney, pancreas, skeletal muscle and heart
SABiosciences Expression via Pathway-Focused PCR Array including TIMM8A:
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for TIMM8A
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat TIMM8A | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat TIMM8A | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat TIMM8A | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TIMM8A |
Orthologs
for TIMM8A gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of eukaryotes.
Orthologs for TIMM8A gene from 8/22 species (see all 22) About this table
| Organism |
Taxonomic
classification |
Gene |
Description |
Human
Similarity |
Orthology
Type |
Details |
mouse
(Mus musculus) |
Mammalia |
Timm8a11 , 5 |
translocase of inner mitochondrial membrane 8 homolog more5
translocase of inner mitochondrial membrane 8A11 |
90.72(n)1
94.85(a)1 |
|
X (56.18 cM)5
300581 NM_013898.21 NP_038926.11
1345372565 |
chicken
(Gallus gallus) |
Aves |
TIMM8A1 |
translocase of inner mitochondrial membrane 8 homolog more |
81.11(n)
91.11(a) |
|
422190 XM_420185.3 XP_420185.1 |
lizard
(Anolis carolinensis) |
Reptilia |
TIMM8A6 |
-- |
86(a) |
1 ↔ 1 |
GL343451.1(229617-231353) |
African clawed frog
(Xenopus laevis) |
Amphibia |
Xl.55632 |
Xenopus laevis transcribed sequence with moderate similarity more |
77.91(n) |
|
48031004 |
zebrafish
(Danio rerio) |
Actinopterygii |
timm8a1 |
translocase of inner mitochondrial membrane 8 homolog more |
74.21(n)
83.33(a) |
|
445243 NM_001003637.2 NP_001003637.1 |
worm
(Caenorhabditis elegans) |
Secernentea |
ddp-16 |
Mitochondrial import inner membrane translocase su... |
39(a) |
1 ↔ 1 |
III(1859879-1860365) |
thale cress
(Arabidopsis thaliana) |
eudicotyledons |
TIM86 |
mitochondrial import inner membrane translocase su... |
34(a) |
1 → many |
5(20675634-20676612) |
rice
(Oryza sativa) |
Liliopsida |
---- |
mitochondrial import inner membrane translocase su...mitochondrial import inner membrane translocase su... |
33(a)29(a) |
many ↔ manymany ↔ many |
8(26747222-26748299) 11(1441725-1443670) |
ENSEMBL Gene Tree for TIMM8A (if available)
TreeFam Gene Tree for TIMM8A (if available) |
Paralogs
for TIMM8A gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for TIMM8A gene
- TIMM8B2
2 SIMAP similar genes for TIMM8A using alignment to 1 protein entry: TIM8A_HUMAN:TIMM8B TIMM13
TIMM8A for paralogs About GeneDecksing
1 Pseudogenes.org Pseudogene for TIMM8A
PGOHUM00000240411
|
Genomic Variants
for TIMM8A gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr X pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for TIMM8A (100600644 - 100604184 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for TIMM8A: --
Human Gene Mutation Database (HGMD): TIMM8A
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing TIMM8A |
|
Disorders
/ Diseases
for TIMM8A gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database, Novoseek,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
TIMM8A for disorders About GeneDecksing
OMIM gene information: 300356
OMIM disorders: 304700 311150
UniProtKB/Swiss-Prot: TIM8A_HUMAN, O60220
Defects in TIMM8A are the cause of Mohr-Tranebjaerg syndrome (MTS) [MIM:304700]; also known asdystonia-deafness syndrome (DDS) or X-linked progressive deafness type 1 (DFN-1). It is a recessive neurodegenerativesyndrome characterized by postlingual progressive sensorineural deafness as the first presenting symptom in earlychildhood, followed by progressive dystonia, spasticity, dysphagia, mental deterioration, paranoia and corticalblindness Defects in TIMM8A are the cause of Jensen syndrome (JENSS) [MIM:311150]; also known as opticoacoustic nerveatrophy with dementia. This X-linked disease is characterized by deafness, blindness and muscle weakness
20/22  diseases for TIMM8A (see all 22): About MalaCardsmohr-tranebjaerg syndrome x-linked disease jensen syndrome deafness, x-linked 1
deafness, x-linked 1, progressive x-linked nonsyndromic deafness focal dystonia limb dystonia
nonsyndromic deafness x inactivation cortical blindness optic atrophy
blepharospasm familial deafness neurodegenerative disease agammaglobulinemia
dementia blindness neurodegeneration spasticity
3 diseases from the University of Copenhagen DISEASES database for TIMM8A:Deafness dystonia syndrome X-linked nonsyndromic deafness Sensorineural hearing loss 10 Novoseek disease relationships for TIMM8A gene About this table
GeneTests: TIMM8A
Deafness-Dystonia-Optic Neuronopathy Syndrome
Human Genome Epidemiology (HuGE) Navigator: TIMM8A (4 documents)
Export disorders for TIMM8A gene to outside databases
|
Publications
for TIMM8A gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for TIMM8A gene, integrated from 9 sources (see all 67):
(articles sorted by number of sources associating them with TIMM8A) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- A novel X-linked gene, DDP, shows mutations in families with deafness (DFN-1), dystonia, mental deficiency and blindness. (PubMed id 8841189)1, 2, 3, 9 Jin H.... Vetrie D. (1996)
- A de novo missense mutation in a critical domain of the X-linked DDP gene causes the typical deafness-dystonia-optic atrophy syndrome. (PubMed id 10878669)1, 2, 9 Tranebjaerg L....Van Ghelue M. (2000)
- Role of the deafness dystonia peptide 1 (DDP1) in import of human Tim23 into the inner membrane of mitochondria. (PubMed id 11489896)1, 2, 9 Rothbauer U.... Bauer M.F. (2001)
- Human deafness dystonia syndrome is a mitochondrial disease. (PubMed id 10051608)1, 2, 9 Koehler C.M....Schatz G. (1999)
- The human family of deafness/dystonia peptide (DDP) related mitochondrial import proteins. (PubMed id 10552927)1, 3, 9 Jin H.... Vetrie D.L.P. (1999)
- The calcium-binding aspartate/glutamate carriers, citrin and aralar1, are new substrates for the DDP1/TIMM8a-TIMM13 complex. (PubMed id 15254020)1, 2, 9 Roesch K.... Koehler C.M. (2004)
- The DNA sequence of the human X chromosome. (PubMed id 15772651)1, 2 Ross M.T.... Bentley D.R. (2005)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
- Human deafness dystonia syndrome is caused by a defect in assembly of the DDP1/TIMM8a-TIMM13 complex. (PubMed id 11875042)1, 2 Roesch K.... Koehler C.M. (2002)
- The C66W mutation in the deafness dystonia peptide 1 (DDP1) affects the formation of functional DDP1.TIM13 complexes in the mitochondrial intermembrane space. (PubMed id 11956200)1, 2 Hofmann S.... Bauer M.F. (2002)
|
External Searches for TIMM8A gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing TIMM8A gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
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Other Databases showing TIMM8A gene
(According to HUGE)
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Specialized Databases showing TIMM8A gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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| Patent Information for TIMM8A gene:
Search GeneIP for patents involving TIMM8A
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Products
for TIMM8A gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory)
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| | |  | Browse OriGene Antibodies | | OriGene shRNA RFP for TIMM8A | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for TIMM8A | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for TIMM8A | | | OriGene Protein Over-expression Lysate for TIMM8A | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for TIMM8A | | Browse 3'-UTR reporter clones for miRNA target validation | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for TIMM8A | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for TIMM8A | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | OriGene Purified Protein for TIMM8A | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling | | | OriGene Custom Antibody Services for TIMM8A | | OriGene Custom Protein Services for TIMM8A | | | OriGene Custom Immunoassay Development | | |
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| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat TIMM8A | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing TIMM8A | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TIMM8A | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat TIMM8A | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat TIMM8A | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat TIMM8A |
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| | | | Search Tocris compounds for TIMM8A |
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 | | | TIMM8A Proteins, Antibodies, CLIAs, and ELISAs |
| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TIMM8A |
|  |  |  |  | | | | Search ThermoFisher Antibodies for TIMM8A |
| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TIMM8A |
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