TIMM8A
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].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| translocase of inner mitochondrial membrane 8A | MIM:300356 | Ensembl:ENSG00000126953 | HGNC:HGNC:11817 | PA36523 | Xq22.1 |
GO terms in TIMM8A
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| BP | TAS | GO:0007399 | nervous system development |
| BP | TAS | GO:0072321 | chaperone-mediated protein transport |
| CC | HDA | GO:0005739 | mitochondrion |
| CC | IDA | GO:0005739 | mitochondrion |
| CC | IEA | GO:0005743 | mitochondrial inner membrane |
| CC | IDA | GO:0005758 | mitochondrial intermembrane space |
| MF | IPI | GO:0005515 | protein binding |
| MF | IEA | GO:0046872 | metal ion binding |
Gene expression in normal tissue: TIMM8A
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in TIMM8A
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| reactome | R-HSA-1268020 | Mitochondrial protein import |
| reactome | R-HSA-392499 | Metabolism of proteins |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in TIMM8A
Copyright © 2018 Modellab | All Rights Reserved
Disclaimer: iGMDR is intended for research purposes only. Its information cannot be used for emergencies or medical or professional advice.