TBC1D23

TBC1D23 (TBC1 Domain Family Member 23) is a Protein Coding gene. Diseases associated with TBC1D23 include Pontocerebellar Hypoplasia, Type 11 and Pontoneocerebellar Hypoplasia.

TBC1D23

Putative Rab GTPase-activating protein which plays a role in vesicular trafficking (PubMed:28823707).
Involved in endosome-to-Golgi trafficking. Acts as a bridging protein by binding simultaneously to golgins, including GOLGA1 and GOLGA4, located at the trans-Golgi, and to the WASH complex, located on endosome-derived vesicles (PubMed:29084197, PubMed:29426865).
Together with WDR11 complex facilitates the golgin-mediated capture of vesicles generated using AP-1 (PubMed:29426865).
Plays a role in brain development, including in cortical neuron positioning (By similarity).
May also be important for neurite outgrowth, possibly through its involvement in membrane trafficking and cargo delivery, 2 processes that are essential for axonal and dendritic growth (By similarity).
May act as a general inhibitor of innate immunity signaling, strongly inhibiting multiple TLR and dectin/CLEC7A-signaling pathways. Does not alter initial activation events, but instead affects maintenance of inflammatory gene expression several hours after bacterial lipopolysaccharide (LPS) challenge (By similarity).

Biological Process brain developmentIMP:UniProtKB2 Publications
Biological Process embryonic brain developmentISS:UniProtKB
Biological Process neuron projection developmentISS:UniProtKB
Biological Process retrograde transport, endosome to GolgiIMP:UniProtKB1 Publication
Biological Process vesicle tethering to GolgiIDA:UniProtKB1 Publication
Biological Process vesicle-mediated transportISS:UniProtKB

Golgi apparatus, trans-Golgi network
Cytoplasmic vesicle
Localization to the trans-Golgi is regulated by ARL1 and ARL5B/ARL8. ARL1 increases Golgi localization, while ARL5B decreases it. Recruitment to the trans-Golgi network requires the presence of GOLGA1 and GOLGA4, but not that of FAM91A1 (PubMed:29084197, PubMed:28823706).
Recruited on AP-1-derived vesicles by WDR11 complex (PubMed:29426865).

Pontocerebellar hypoplasia 11 (PCH11):
A non-degenerative form of pontocerebellar hypoplasia, a disorder characterized by structural defects of the pons and cerebellum, evident upon brain imaging. PCH11 features include severely delayed psychomotor development with intellectual disability and poor speech, microcephaly, dysmorphic features, and pontocerebellar hypoplasia. PCH11 inheritance is autosomal recessive.