TIMM8B - translocase of inner mitochondrial membrane 8 homolog B Gene

Homo sapiens

Also known as DDP2; TIM8B

Gene ID: 26521 | Gene type: protein coding

About TIMM8B

Cytogenetic location: 11q23.1 Genomic coordinates (GRCh38): 11:112,084,800-112,086,756 (from NCBI)

This gene has 4 transcripts (splice variants), 204 orthologues and 1 paralogue. Ubiquitous expression in heart (RPKM 16.7), colon (RPKM 15.7) and 25 other tissues.

Summary

This gene encodes a member of a well-conserved family of proteins with similarity to yeast Tim mitochondrial import proteins. This gene is encoded by a nuclear gene and is transported into the intermembrane space of the mitochondrion. When formed into complexes, these proteins guide membrane-spanning proteins across the mitochondrial intermembrane space before they are added into the mitochondrial inner membrane. This gene is adjacent to succinate dehydrogenase, subunit D (SDHD), in which mutations have been found in affected members of families with hereditary paraganglioma.[provided by RefSeq, Aug 2009]

TIMM8B Products(1)

mRNA	Protein	Name
NM_012459.4	NP_036591.3	mitochondrial import inner membrane translocase subunit Tim8 B

TIMM8B Protein Structure

zf-Tim10_DDP

0
83 a.a.

Protein Preferred Names

Protein Names

mitochondrial import inner membrane translocase subunit Tim8 B

DDP-like protein

Related Diseases

Diseases

Alias

Dystonia

Dystonic Disease	Dystonic Disorder
Dystonia Disorders	Neuroleptic Dyskinesia

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

Paraganglioma

Chemodectoma	Glomus Body Tumor
Paragangliomas	Carotid Body Paraganglioma
Extra-Adrenal Paraganglioma

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS14535	TIMM8B Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	TIMM8B	VGNC	VGNC:66191
Mus musculus	TIMM8B	MGD	MGI:1353424
Bos taurus	TIMM8B	VGNC	VGNC:54899
Rattus norvegicus	TIMM8B	RGD	RGD:619840
Canis familiaris	TIMM8B	VGNC	VGNC:49624

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