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TIMM8A

TIMM8A

Protein-coding gene in humans

deafness-dystonia peptide or protein is an enzyme that in humans is encoded by the TIMM8A gene. This translocase has similarity to yeast mitochondrial proteins that

TIMM8A

Mohr–Tranebjærg syndrome

Medical condition

also known as deafness–dystonia syndrome and caused by mutation in the TIMM8A gene. It is characterized by clinical manifestations commencing with early

Mohr–Tranebjærg syndrome

Mohr–Tranebjærg_syndrome

Topics referred to by the same term

technology Deafness dystonia polypeptide, a protein/gene also known as TIMM8A DNA Doe Project, a non-profit, volunteer group that identifies John and

DDP

TIMM13

Protein-coding gene in the species Homo sapiens

and into the mitochondrial inner membrane. The encoded protein and the TIMM8a protein form a 70 kDa complex in the intermembrane space. This gene is in

TIMM13

Signal transducing adaptor molecule

Protein-coding gene in the species Homo sapiens

has been shown to interact with HGS, Janus kinase 2. MAP3K1, STAMBP, and TIMM8A. GRCh38: Ensembl release 89: ENSG00000136738 – Ensembl, May 2017 GRCm38:

Signal transducing adaptor molecule

Signal_transducing_adaptor_molecule

CLPB

Protein found in humans

HAX1 PARL HTRA2 SMAC/DIABLO OPA1 OPA3 PHB2 MICU1 MICU2 SLC25A25 SLC25A13 TIMM8A TIMM8B TIMM13 TIMM21 TIMM22 TIMM23 TIMM50 NDUFA8 NDUFA11 NDUFA13 NDUFB7

CLPB

List of human protein-coding genes 8

16707 TIMD4 HGNC:25132; Q96H15 16708 TIMELESS HGNC:11813; Q9UNS1 16709 TIMM8A HGNC:11817; O60220 16710 TIMM8B HGNC:11818; Q9Y5J9 16711 TIMM9 HGNC:11819;

List of human protein-coding genes 8

List_of_human_protein-coding_genes_8

List of OMIM disorder codes

syndrome; 123150; FGFR2 Jalili syndrome; 217080; CNNM4 Jensen syndrome; 311150; TIMM8A Jervell and Lange-Nielsen syndrome 2; 612347; KCNE1 Jervell and Lange-Nielsen

List of OMIM disorder codes

List_of_OMIM_disorder_codes

Calcium-binding mitochondrial carrier protein Aralar1

Protein found in humans

calcium-binding aspartate/glutamate carriers which are substrates in the TIMM8A/TIMM13 complex. Overexpression of Aralar1 augments mitochondrial metabolism

Calcium-binding mitochondrial carrier protein Aralar1