KEGG   VARIANT: 79188v1
Entry
79188v1                      Variant                               
Name
TMEM43 mutation
Gene
TMEM43  transmembrane protein 43 [KO:K27488]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 612048
Network
nt06539  Cytoskeleton in muscle cells
Disease
H00293  Arrhythmogenic right ventricular cardiomyopathy
H00563  Emery-Dreifuss muscular dystrophy
H02339  Auditory neuropathy
Reference
  Authors
Christensen AH, Andersen CB, Tybjaerg-Hansen A, Haunso S, Svendsen JH
  Title
Mutation analysis and evaluation of the cardiac localization of TMEM43 in arrhythmogenic right ventricular cardiomyopathy.
  Journal
Clin Genet 80:256-64 (2011)
DOI:10.1111/j.1399-0004.2011.01623.x
Reference
  Authors
Liang WC, Mitsuhashi H, Keduka E, Nonaka I, Noguchi S, Nishino I, Hayashi YK
  Title
TMEM43 mutations in Emery-Dreifuss muscular dystrophy-related myopathy.
  Journal
Ann Neurol 69:1005-13 (2011)
DOI:10.1002/ana.22338
Reference
  Authors
Jang MW, Oh DY, Yi E, Liu X, Ling J, Kim N, Sharma K, Kim TY, Lee S, Kim AR, Kim MY, Kim MA, Lee M, Han JH, Han JJ, Park HR, Kim BJ, Lee SY, Woo DH, Oh J, Oh SJ, Du T, Koo JW, Oh SH, Shin HW, Seong MW, Lee KY, Kim UK, Shin JB, Sang S, Cai X, Mei L, He C, Blanton SH, Chen ZY, Chen H, Liu X, Nourbakhsh A, Huang Z, Kang KW, Park WY, Feng Y, Lee CJ, Choi BY
  Title
A nonsense TMEM43 variant leads to disruption of connexin-linked function and autosomal dominant auditory neuropathy spectrum disorder.
  Journal
Proc Natl Acad Sci U S A 118:2019681118 (2021)
DOI:10.1073/pnas.2019681118
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