KIAA0556
Gene Information
- Official Symbol: KIAA0556
- Official Name: KIAA0556
- Aliases and Previous Symbols: N/A
- Entrez ID: 23247
- UniProt: O60303
- Interactions: BioGRID
- PubMed articles: Open PubMed
- OMIM: N/A
Function Summary
- Entrez Summary: This gene encodes a novel, evolutionarily conserved, ciliary protein. In human hTERT-RPE1 cells, the protein is found at the base of cilia, decorating the ciliary axoneme, and enriched at the ciliary tip. The protein binds to microtubules in vitro and regulates their stability when it is overexpressed. A null mutation in this gene has been associated with Joubert syndrome, a recessive disorder that is characterized by a distinctive mid-hindbrain and cerebellar malformation and is also often associated with wider ciliopathy symptoms. Consistently, in a serum-starvation ciliogenesis assay, human fibroblast cells derived from patients with the mutation display a reduced number of ciliated cells with abnormally long cilia. [provided by RefSeq, Feb 2016].
- UniProt Summary: May influence the stability of microtubules (MT), possibly through interaction with the MT-severing katanin complex. {ECO:0000269|PubMed:26714646}.
CRISPR Data
Essentiality in NALM6
- Essentiality Rank: 11478
- Expression level (log2 read counts): 4.7
KIAA0556 Expression in NALM6 Cells: 4.7
