TUBGCP4

Cilia effects upon perturbation of TUBGCP4

Ciliogenesis screen results (2 screens)

• Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-3.16) PMID:26167766
• Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680

Phenotypes

Mouse phenotype:

embryonic lethality prior to organogenesis, preweaning lethality, complete penetrance, abnormal vibrissa morphology, hyperactivity, absent vibrissae

Ciliopathy associations

• Microcephaly

Subcellular localization

basal body, centrosome, cytosol

Functional category

• Ciliary assembly/disassembly
• Actin & cytoskeleton regulation
• Protein processing & maturation

Function

Also known as GCP4. Required for the initial assembly of gamma-tubulin ring complexes and for their stabilization after assembly. These complexes are used as templates for the longitudi l association with 伪/尾-tubulin dimers during the nucleation process (29514869, 32317396). Associates with gamma-tubulin small complexes, GCP5 and GCP6 (21725292). Mutations have been identified in patients with autosomal- recessive microcephaly and chorioretinopathy. Role in mainte nce of reti l homeostasis, through participating in assembly of gamma- TuRC (31209365).