DISEASES

Disease-gene associations mined from literature

Literature on GAS8

GAS8 [ENSP00000268699]

Dynein regulatory complex subunit 4; Component of the nexin-dynein regulatory complex (N-DRC), a key regulator of ciliary/flagellar motility which maintains the alignment and integrity of the distal axoneme and regulates microtubule sliding in motile axonemes. Plays an important role in the assembly of the N-DRC linker (By similarity). Plays dual roles at both the primary (or non-motile) cilia to regulate hedgehog signaling and in motile cilia to coordinate cilia movement. Required for proper motile cilia functioning . Positively regulates ciliary smoothened (SMO)-dependent Hedgehog (Hh) signaling pathway by facilitating the trafficking of SMO into the cilium and the stimulation of SMO activity in a GRK2-dependent manner (By similarity). ECO:0000250|UniProtKB:Q7XJ96, ECO:0000269|PubMed:26387594,

Synonyms:  GAS8,  GAS8p,  hGAS8,  A0A087WZT7,  A0A384MR00 ...

Linkouts:  STRING  Pharos  UniProt  OMIM