TIMM8A - translocase of inner mitochondrial membrane 8A Gene

Also Known as DDP; MTS; DDP1; DFN1; TIM8

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 1678

About TIMM8A

Cytogenetic location: Xq22.1 Genomic coordinates (GRCh38): X:101,345,661-101,348,742 (from NCBI)

This gene has 4 transcripts (splice variants), 211 orthologues, 1 paralogue and is associated with 4 phenotypes. Ubiquitous expression in liver (RPKM 4.3), kidney (RPKM 2.9) and 25 other tissues.

Summary

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]

TIMM8A Products (2)

mRNA	Protein	Name
NM_001145951.2	NP_001139423.1	mitochondrial import inner membrane translocase subunit Tim8 A isoform 2
NM_004085.4	NP_004076.1	mitochondrial import inner membrane translocase subunit Tim8 A isoform 1

Gene Ontology

Molecular Function
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables identical protein binding	IPI IPI: Inferred from physical interaction	11956200	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	11956200	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in mitochondrial intermembrane space	IDA IDA: Inferred from direct assay	14726512	GOA
part of mitochondrial intermembrane space protein transporter complex	IPI IPI: Inferred from physical interaction	11956200	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

TIMM8A Protein Structure

zf-Tim10_DDP

0
97 a.a.

Protein Preferred Names	Protein Names
mitochondrial import inner membrane translocase subunit Tim8 A	X-linked deafness dystonia protein

TIMM8A Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	TIMM8A	O60220	STAM2	Homo sapiens	O75886	Y2H Array	25910212
Intra	TIMM8A	O60220	STAM2	Homo sapiens	O75886	Validated Y2H	25416956
Intra	TIMM8A	O60220	STAM2	Homo sapiens	O75886	Y2H Array	32296183
Intra	TIMM8A	O60220	STAM2	Homo sapiens	O75886	Y2H Bait-Prey Pool	25910212
Intra	TIMM8A	O60220	TIMM13	Homo sapiens	Q9Y5L4	Anti Tag CoIP	33961781
Intra	TIMM8A	O60220	STAM2	Homo sapiens	O75886	Y2H Prey Pooling	32296183
Intra	TIMM8A	O60220	STAM2	Homo sapiens	O75886	Validated Y2H	25910212
Intra	TIMM8A	O60220	TIMM13	Homo sapiens	Q9Y5L4	Pull Down	11956200
Intra	TIMM8A	O60220	STAM2	Homo sapiens	O75886	Validated Y2H	32296183
Intra	TIMM8A	O60220	GLE1	Homo sapiens	Q53GS7	Validated Y2H	32814053
Intra	TIMM8A	O60220	GLE1	Homo sapiens	Q53GS7	Y2H Pooling	32814053
Intra	TIMM8A	O60220	GLE1	Homo sapiens	Q53GS7	Y2H Array	32814053
Intra	TIMM8A	O60220	C1QTNF2	Homo sapiens	Q9BXJ5	Validated Y2H	32296183
Intra	TIMM8A	O60220	CCT5	Homo sapiens	P48643	Validated Y2H	32814053
Intra	TIMM8A	O60220	CCT5	Homo sapiens	P48643	Y2H Array	32814053
Intra	TIMM8A	O60220	CCT5	Homo sapiens	P48643	Y2H Pooling	32814053
Intra	TIMM8A	O60220	CAVIN3	Homo sapiens	Q969G5	Validated Y2H	32296183
Intra	TIMM8A	O60220	HTT	Homo sapiens	P42858	Validated Y2H	32814053
Intra	TIMM8A	O60220	HTT	Homo sapiens	P42858	Y2H Array	32814053
Intra	TIMM8A	O60220	HTT	Homo sapiens	P42858	Y2H Pooling	32814053
Intra	TIMM8A	O60220	SPRED1	Homo sapiens	Q7Z699	Validated Y2H	32814053
Intra	TIMM8A	O60220	SPRED1	Homo sapiens	Q7Z699	Y2H Pooling	32814053
Intra	TIMM8A	O60220	SPRED1	Homo sapiens	Q7Z699	Y2H Array	32814053
Intra	TIMM8A	O60220	ARID3A	Homo sapiens	Q99856	Validated Y2H	32296183
Intra	TIMM8A	O60220	ARID3A	Homo sapiens	Q99856	Y2H Prey Pooling	32296183
Intra	TIMM8A	O60220	ARID3A	Homo sapiens	Q99856	Y2H Array	32296183
Intra	TIMM8A	O60220	WFS1	Homo sapiens	O76024	Validated Y2H	32814053
Intra	TIMM8A	O60220	WFS1	Homo sapiens	O76024	Y2H Pooling	32814053
Intra	TIMM8A	O60220	WFS1	Homo sapiens	O76024	Y2H Array	32814053
Intra	TIMM8A	O60220	KRT15	Homo sapiens	P19012	Y2H Array	25416956

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Mohr-Tranebjaerg Syndrome	Deafness-Dystonia-Optic Neuronopathy Syndrome Jensen Syndrome Deafness Dystonia Syndrome MTS Dds Deafness-Dystonia-Optic Atrophy Syndrome Deafness Syndrome, Progressive, With Blindness, Dystonia, Fractures, And Mental Deficiency Opticoacoustic Nerve Atrophy With Dementia Dystonia-Deafness Syndrome Ddp Ddon Syndrome Mohr-Tranebjærg Syndrome Deafness Dystonia Optic Atrophy Syndrome Deafness Dystonia Optic Neuronopathy Syndrome Dystonia Deafness Syndrome Ddon Deafness - Dystonia - Optic Neuronopathy Syndrome Deafness-Dystonia-Optic Neuronopathy Syndrome Hearing Loss-Dystonia-Optic Neuronopathy Syndrome Dfn-1 X-Linked Progressive Deafness Type 1
Focal Dystonia	Dystonia, Focal, Task-Specific
Dystonia	Dystonic Disease Dystonic Disorder Dystonia Disorders Neuroleptic Dyskinesia
Cortical Blindness	Blindness, Cortical
Blepharospasm
Isthmus Cancer
Aniseikonia
Mitochondrial Disease	Mitochondrial Diseases Mitochondrial Disorder
Deafness, X-Linked 1	DFNX1 Dfn2 Deafness, X-Linked 2, Sensorineural Congenital X-Linked Deafness 1 X-Linked Sensorineural Congenital Deafness 2 Deafness, X-Linked, 1 Congenital Sensorineural Deafness X-Linked 2 Deafness, X-Linked, Type 1
Agammaglobulinemia	Hypogammaglobulinemia Ighm Mu Heavy Chain Deficiency Mu-Heavy Chain Disease Mu-Hcd Mu-Chain Disease
Deafness, X-Linked 7	X-Linked External Auditory Canal Atresia-Dilated Internal Auditory Canal-Facial Dysmorphism Syndrome DFNX7 X-Linked Deafness 7 Deafness, X-Linked, 7
X-Linked Nonsyndromic Deafness	X-Linked Deafness Deafness, X-Linked
Mitochondrial Metabolism Disease	Abnormality Of Mitochondrial Metabolism Mitochondrial Diseases
Deafness, X-Linked 4	DFNX4 Dfn6 Deafness, Nonsyndromic Sensorineural Progressive 6 X-Linked Deafness 4 Deafness, X-Linked 6, Progressive Nonsyndromic Sensorineural Progressive Deafness 6 X-Linked Progressive Deafness 6 Deafness, X-Linked, 4 Deafness Nonsyndromic Sensorineural Progressive 6 Deafness X-Linked 6 Progressive Deafness, X-Linked, Type 4
3-Methylglutaconic Aciduria, Type Iii	Optic Atrophy 3-Methylglutaconic Aciduria Type 3 Costeff Syndrome Mga3 Costeff Optic Atrophy Syndrome Optic Atrophy Plus Syndrome Infantile Optic Atrophy With Chorea And Spastic Paraplegia 3-Methylglutaconic Aciduria Type Iii Autosomal Recessive Optic Atrophy Plus Syndrome Autosomal Recessive Optic Atrophy Type 3 Opa3 Defect MGCA3 Mga, Type Iii Iraqi Jewish Optic Atrophy Plus Mga Type Iii Optic Atrophy, Infantile, With Chorea And Spastic Paraplegia Iraqi-Jewish 'Optic Atrophy Plus' Optic Atrophy 3, Autosomal Recessive Opa3, Autosomal Recessive Opa3-Related 3-Methylglutaconic Aciduria Iraqi-Jewish Optic Atrophy Plus Atrophy Of Optic Disc 3-Alpha Methylglutaconic Aciduria Type Iii Optic Atrophy 3 Optic Atrophy Infantile With Chorea And Spastic Paraplegia Autosomal Recessive Opa3 Autosomal Recessive Optic Atrophy 3 3-Methylglutaconic Aciduria 3 3-Alpha-Methylglutaconic Aciduria Type 3 Optic Atrophy 3 Autosomal Recessive Atrophy, Optic Atrophy, Optic, Plus Syndrome Optic Nerve Atrophy Primary Optic Atrophy Oa - [Optic Atrophy] Second Cranial Nerve Atrophy Second Cranium Nerve Atrophy
Visual Cortex Disease	Visual Cortex Dysfunction Visual Cortex Disorder Visual Cortical Disorder Disease Of Visual Cortex
3-Methylglutaconic Aciduria, Type V	3-Methylglutaconic Aciduria Type 5 Mga5 MGCA5 Dcma Dcma Syndrome Dilated Cardiomyopathy With Ataxia 3-Methylglutaconic Aciduria Type V Mga Type V Cardiomyopathy, Dilated, With Ataxia Mga, Type V Dilated Cardiomyopathy With Ataxia Syndrome Dnajc19 Defect 3-Methylglutaconic Aciduria 5 3-Alpha-Methylglutaconic Aciduria Type 5 3-@Methylglutaconic Aciduria, Type V
Deafness, X-Linked 2	Progressive Deafness With Stapes Fixation DFNX2 Dfn3 Nance Deafness Perilymphatic Gusher-Deafness Syndrome Stapedo-Vestibular Ankylosis Sensorineural Deafness, Profound, With Or Without A Conductive Component, Associated With A Unique Developmental Abnormality Of The Ear X-Linked Deafness 2 X-Linked Mixed Conductive And Neurosensory Deafness X-Linked Mixed Conductive And Sensorineural Deafness Deafness 3 Conductive With Stapes Fixation Deafness Conductive With Stapes Fixation Deafness Mixed With Perilymphatic Gusher Thies-Reis Syndrome Deafness, Conductive, With Stapes Fixation Deafness 3, Conductive, With Stapes Fixation Deafness, Mixed, With Perilymphatic Gusher Conductive Deafness 3 With Stapes Fixation Conductive Deafness With Stapes Fixation Mixed Deafness With Perilymphatic Gusher X-Linked Deafness Type 2 X-Linked Mixed Conductive And Neurosensory Hearing Loss X-Linked Mixed Conductive And Sensorineural Hearing Loss X-Linked Sensorineural Deafness X-Linked Stapes Gusher Syndrome Deafness Mixed With Perilymphatic Gusher, X-Linked Dfn 3 Nonsyndromic Hearing Loss And Deafness Gusher Syndrome Thies Reis Syndrome Progressive Hearing Loss With Stapes Fixation Deafness, X-Linked, 2 Deafness Mixed With Perilymph Gusher X-Linked Deafness, X-Linked, Type 2 Progressive Hearing Loss Stapes Fixation
Visual Pathway Disease	Disorder Of Visual Pathways
Cornelia De Lange Syndrome 1	De Lange Syndrome CDLS1 Cdl Cdls Typus Degenerativus Amstelodamensis Brachmann-De Lange Syndrome Bdls Amstelodamensis Typus Degenerativus Cornelia De Lange Syndrome, Type 1
3-Methylglutaconic Aciduria	3-Methyl Glutaconic Aciduria
Sengers Syndrome	Mitochondrial Dna Depletion Syndrome 10 Cardiomyopathy And Cataract Cataract And Cardiomyopathy MTDPS10 Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome Cardiomyopathic Mitochondrial Dna Depletion Syndrome 10 Senger Syndrome
Sensorineural Hearing Loss	Sensory Hearing Loss Sensorineural Deafness Sensorineural Hearing Loss Disorder Hearing Loss, Sensorineural Central Hearing Loss High Frequency Deafness High Frequency Hearing Loss High-Frequency Hearing Loss Perceptive Deafness Perceptive Hearing Loss Perceptive Hearing Loss Or Deafness Hearing Loss Sensorineural Deafness Sensorineural Hearing Loss High-Frequency Hearing Loss, Central Hearing Loss, High-Frequency
Woodhouse-Sakati Syndrome	Diabetes-Hypogonadism-Deafness-Intellectual Disability Syndrome Woodhouse Sakati Syndrome Hypogonadism, Alopecia, Diabetes Mellitus, Mental Retardation, Deafness, And Extrapyramidal Syndrome WDSKS Extrapyramidal Disorder, Progressive, With Primary Hypogonadism, Mental Retardation, And Alopecia Diabetes-Hypogonadism-Hearing Loss-Intellectual Disability Syndrome Progressive Extrapyramidal Disorder With Primary Hypogonadism, Mental Retardation, Alopecia Hypogonadism, Alopecia, Diabetes Mellitus, Intellectual Disability, Extrapyramidal Syndrome Neuroectodermal Endocrine Syndrome Hypogonadism, Diabetes Mellitus, Alopecia, Mental Retardation, And Electrocardiographic Abnormalities Hypogonadism, Alopecia, Diabetes Mellitus, Mental Retardation, And Extrapyramidal Syndrome Hypogonadism, Diabetes Mellitus, Alopecia, Mental Retardation And Electrocardiographic Abnormalities Wss
Amme Complex	Alport Syndrome, Mental Retardation, Midface Hypoplasia, And Elliptocytosis ATS-MR Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome Chromosome Xq22.3 Telomeric Deletion Syndrome Amme Syndrome Alport Syndrome With Intellectual Disability, Midface Hypoplasia And Elliptocytosis
Charcot-Marie-Tooth Disease X-Linked Recessive 4	Cmt4x Cmtx4 Cowchock Syndrome X-Linked Charcot-Marie-Tooth Disease Type 4 Axonal Motor Sensory Neuropathy With Deafness And Mental Retardation Charcot-Marie-Tooth Disease With Deafness And Mental Retardation Nadmr Namsd
Movement Disease	Movement Disorders Movement Disorder
Leber Hereditary Optic Neuropathy, Modifier Of	Leber Optic Atrophy Leber Hereditary Optic Neuropathy LHON Leber'S Hereditary Optic Neuropathy Leber Optic Atrophy, Susceptibility To Leber'S Optic Atrophy LOAM Loas Leber'S Disease Leber'S Optic Neuropathy Optic Atrophy, Hereditary, Leber Lhon, Modifier Of Optic Atrophy, Leber Type Hereditary Optic Neuroretinopathy Leber Hereditary Optic Atrophy Loa Optic Atrophy Leber Type Leber Hereditary Optic Neuropathy, Modifier Leber Hereditary Optic Neuropathy Susceptibility Modifier Of Leber Hereditary Optic Neuropathy Lebers Hereditary Optic Neuropathy Leber Congenital Amaurosis
Hereditary Spastic Paraplegia	Familial Spastic Paraplegia Hereditary Spastic Paraparesis Strumpell-Lorrain Disease Familial Spastic Paraparesis Hsp Spg Strümpell-Lorrain Disease Spastic Paraplegia, Hereditary French Settlement Disease Strumpell-Lorrain Syndrome Fsp Spastic Paraplegia, Familial Spastic Paraplegia Hereditary Spastic Paraplegia 3, Autosomal Dominant Spastic Paraparesis Hereditary Spastic Paralysis Familial Spastic Paralysis Hereditary Spastic Ataxia

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS14534	TIMM8A Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	TIMM8A	VGNC	VGNC:49623
Rattus norvegicus	TIMM8A	RGD	RGD:621801
Bos taurus	TIMM8A	VGNC	VGNC:49578
Mus musculus	TIMM8A	MGD	MGI:1353433
Others	TIMM8A	NCBI