9.B.232. The Parkinson's disease TMEM230 (TMEM230) Family  

Parkinson's disease is the second most common neurodegenerative disorder which is generally sporadic with unknown etiology. However, genetic studies of rare familial forms have led to the identification of mutations in several genes that are linked to Parkinson's disease or parkinsonian disorders. Deng et al. 2016 reported a locus for an autosomal dominant Parkinson's disease gene encoding TMEM230 that is a 2 TMS protein in secretory/recycling vesicles, including synaptic vesicles of neurons. Disease-linked TMEM230 mutants impair synaptic vesicle trafficking. Maintaining TMEM230 protein levels is critical for neuron survival and axon transport, suggesting that mutant-TMEM230-induced mitochondrial transport impairment could be the early event leading to neurite injury and neurodegeneration in PD development (Wang et al. 2021).





Deng, H.X., Y. Shi, Y. Yang, K.B. Ahmeti, N. Miller, C. Huang, L. Cheng, H. Zhai, S. Deng, K. Nuytemans, N.J. Corbett, M.J. Kim, H. Deng, B. Tang, Z. Yang, Y. Xu, P. Chan, B. Huang, X.P. Gao, Z. Song, Z. Liu, F. Fecto, N. Siddique, T. Foroud, J. Jankovic, B. Ghetti, D.A. Nicholson, D. Krainc, O. Melen, J.M. Vance, M.A. Pericak-Vance, Y.C. Ma, A.H. Rajput, and T. Siddique. (2016). Identification of TMEM230 mutations in familial Parkinson's disease. Nat. Genet. 48: 733-739.

Wang, X., G. Guo, J. Zhang, N. Aebez, Z. Liu, C.F. Liu, C.A. Ross, and W.W. Smith. (2021). Mutant-TMEM230-induced neurodegeneration and impaired axonal mitochondrial transport. Hum Mol Genet 30: 1535-1542.


TC#NameOrganismal TypeExample

TMEM230 of 120 aas and 2 TMSs.  Mutants in this protein give rise to Parkinson's disease and defects in synaptic vesicle trafficking (Deng et al. 2016).

TMEM230 of Homo sapiens


Uncharacterized TMEM230 homologue of 86 aas and 2 TMSs.

UP of Chlorella variabilis (Green alga)


Uncharacterized TMEM230 homologue of 114 aas and 2 TMSs

UP of Guillardia theta


Uncharacterized TMEM230 homologue of 115 aas and 2 TMSs

UP of Trichinella spiralis (Trichina worm)


Uncharacterized TMEM230 homologue of 179 aas and 2 TMSs.

UP of Musca domestica (House fly)


Uncharacterized TMEM230 homologue of 170 aas and 2 TMSs.

UP of Drosophila melanogaster (Fruit fly)


Uncharacterized UPF0414 transmembrane protein C20orf30 like protein of119 aas and 2 TMSs.

UP of Chelonia mydas (Green sea-turtle) (Chelonia agassizi)


Transmembrane protein 134, TMEM134, of 195 aas and 2 TMSs.

TMEM134 of Homo sapiens


Uncharacterized membrane protein of 140 aas and 2 TMSs.

UP of Tetrahymena thermophila


TC#NameOrganismal TypeExample

Uncharacterized protein of 129 aas and 2 TMSs.

UP of Trypanosoma cruzi


Uncharacterized protein of 190 aas and 2 TMSs.

UP of Leishmania mexicana