C9orf72 |
Chromosome 9 open reading frame 72 |
Nucleotide factor |
9p21–22 |
20–50% |
10% |
SOD1 |
Superoxide dismutase 1 |
Superoxide dismutase |
21q22.1 |
10–20% |
2% |
TARDBP |
TDP43 |
RNA-binding protein |
q36 |
5% |
<1% |
FUS |
Fused in sarcoma protein |
RNA-binding protein |
16p11.2 |
5% |
<1% |
MAT3 |
Matrin 3 |
RNA-binding protein |
5q31.2 |
<1% |
<1% |
HNRNPA1 |
Heterogeneous nuclear ribonucleoprotein A1 |
RNA-binding protein |
12q13.1 |
<1% |
<1% |
OPTN |
Optineurin |
Mediator of apoptosis, inflammation and vasoconstriction, cellular morphogenesis, membrane trafficking, vesicle trafficking, transcription activation |
10p15–p14 |
4% |
<1% |
UBQLN2 |
Ubiquilin 2 |
Ubiquitination and protein degradation |
Xp11.23–Xp13.1 |
<1% |
<1% |
SQSTM1 |
Sequestosome 1 |
Autophagosome cargo protein, targets proteins for autophagy |
5q35.3 |
<1% |
<1% |
TBK1 |
Serine/threonine-protein kinase TBK1 |
Phosphorylation of nuclear factor-κB, regulation of cell proliferation, apoptosis and glucose metabolism, promotion of autophagy via the ubiquitylation pathway |
12q14.2 |
<1% |
<1% |
VCP |
Transitional endoplasmic reticulum ATPase |
Ubiquitin segregase |
9p13.3 |
2% |
<1% |
DCTN1 |
Dynactin subunit 1 |
Mediator of organelle transport, spindle formation and axonogenesis |
2p13 |
1% |
<1% |
ANG |
Angiogenin |
Ribonuclease |
14q11 |
<1% |
<1% |
PFN1 |
Profilin 1 |
Actin-binding protein |
17p13.2 |
<1% |
<1% |
CHCHD10 |
Coiled-coil-helix-coiled-coil-helix domain-containing protein 10 |
Maintenance of cristae morphology in mitochondria, oxidative phosphorylation |
22q11.23 |
<1% |
<1% |
TUBA4A |
Tubulin α4A chain |
Microtubule formation, maintenance of cytoskeleton and structure of cells |
2q36.1 |
<1% |
<1% |