DISEASES

Disease-gene associations mined from literature

Literature associating WDR41 and frontotemporal dementia

WDR41 [ENSP00000296679]

WD repeat-containing protein 41; Non-catalytic 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). The C9orf72-SMCR8 complex promotes 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 negative regulator of autophagy initiation by interacting with the ATG1/ULK1 kinase complex and inhibiting its protein kinase activity . ECO:0000269|PubMed:27193190, ECO:0000269|PubMed:27617292,

Synonyms:  WDR41,  WDR41p,  hWDR41,  A0A0S2Z5E0,  B4DHS8 ...

Linkouts:  STRING  Pharos  UniProt