X-linked deafness dystonia protein [Homo sapiens]

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Functional analysis of a novel mutation in the TIMM8A gene that causes deafness-dystonia-optic neuronopathy syndrome. [Mol Genet Genomic Med. 2020]
Functional analysis of a novel mutation in the TIMM8A gene that causes deafness-dystonia-optic neuronopathy syndrome.
Neighbors A, Moss T, Holloway L, Yu SH, Annese F, Skinner S, Saneto R, Steet R. Mol Genet Genomic Med. 2020 Mar; 8(3):e1121. Epub 2020 Jan 5.
Function of hTim8a in complex IV assembly in neuronal cells provides insight into pathomechanism underlying Mohr-Tranebjærg syndrome. [Elife. 2019]
Function of hTim8a in complex IV assembly in neuronal cells provides insight into pathomechanism underlying Mohr-Tranebjærg syndrome.
Kang Y, Anderson AJ, Jackson TD, Palmer CS, De Souza DP, Fujihara KM, Stait T, Frazier AE, Clemons NJ, Tull D, et al. Elife. 2019 Nov 4; 8. Epub 2019 Nov 4.
Phenotype prediction of Mohr-Tranebjaerg syndrome (MTS) by genetic analysis and initial auditory neuropathy. [BMC Med Genet. 2019]
Phenotype prediction of Mohr-Tranebjaerg syndrome (MTS) by genetic analysis and initial auditory neuropathy.
Wang H, Wang L, Yang J, Yin L, Lan L, Li J, Zhang Q, Wang D, Guan J, Wang Q. BMC Med Genet. 2019 Jan 11; 20(1):11. Epub 2019 Jan 11.

RefSeq genomic sequence
See the genomic reference sequence for the TIMM8A gene (NG_011734.1).
RefSeq protein isoforms
See 2 reference sequence protein isoforms for the TIMM8A gene.

Nucleotide
Nucleotide sequence from coding region
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Transcript/Protein Information [PANTHER Classification System]
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reagents [ExactAntigen/Labome]
reagents
ExactAntigen/Labome

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Protein