DISEASES

Disease-gene associations mined from literature

Literature associating C9orf72 and essential tremor

C9orf72 [ENSP00000482753]

Guanine nucleotide exchange C9orf72; Component of the C9orf72-SMCR8 complex, a complex that has guanine nucleotide exchange factor (GEF) activity and regulates autophagy (PubMed:27193190, PubMed:27103069, PubMed:27617292, PubMed:28195531). In the complex, C9orf72 and SMCR8 probably constitute the catalytic subunits that promote the exchange of GDP to GTP, converting inactive GDP-bound RAB8A and RAB39B into their active GTP- bound form, thereby promoting autophagosome maturation . The C9orf72-SMCR8 complex also acts as a regulator of autophagy initiation by interacting with the ATG1/ULK1 kinase complex and modulating its protein kinase activity . Positively regulates initiation of autophagy by regulating the RAB1A- dependent trafficking of the ATG1/ULK1 kinase complex to the phagophore which leads to autophagosome formation . Acts as a regulator of mTORC1 signaling by promoting phosphorylation of mTORC1 substrates . Plays a role in endosomal trafficking . May be involved in regulating the maturation of phagosomes to lysosomes (By similarity). Regulates actin dynamics in motor neurons by inhibiting the GTP-binding activity of ARF6, leading to ARF6 inactivation . This reduces the activity of the LIMK1 and LIMK2 kinases which are responsible for phosphorylation and inactivation of cofilin, leading to cofilin activation . Positively regulates axon extension and axon growth cone size in spinal motor neurons . Plays a role within the hematopoietic system in restricting inflammation and the development of autoimmunity (By similarity). ECO:0000269|PubMed:27103069, ECO:0000269|PubMed:27193190, ECO:0000269|PubMed:27334615, ECO:0000269|PubMed:27559131, ECO:0000269|PubMed:27617292, ECO:0000269|PubMed:27723745, [Isoform 2]: Does not play a role in regulation of stress granule assembly in response to cellular stress.

Synonyms:  C9orf72,  C9orf72p,  hC9orf72,  A0A2R8Y5K2,  A0A2R8Y5U5 ...

Linkouts:  STRING  Pharos  UniProt