TBC1D24
Gene Information
- Official Symbol: TBC1D24
- Official Name: TBC1 domain family member 24
- Aliases and Previous Symbols: N/A
- Entrez ID: 57465
- UniProt: Q9ULP9
- Interactions: BioGRID
- PubMed articles: Open PubMed
- OMIM: Open OMIM
Function Summary
- Entrez Summary: This gene encodes a protein with a conserved domain, referred to as the TBC domain, characteristic of proteins which interact with GTPases. TBC domain proteins may serve as GTPase-activating proteins for a particular group of GTPases, the Rab (Ras-related proteins in brain) small GTPases which are involved in the regulation of membrane trafficking. Mutations in this gene are associated with familial infantile myoclonic epilepsy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2011].
- UniProt Summary: May act as a GTPase-activating protein for Rab family protein(s). Involved in neuronal projections development, probably through a negative modulation of ARF6 function. {ECO:0000269|PubMed:20727515, ECO:0000269|PubMed:20797691}.
CRISPR Data
Essentiality in NALM6
- Essentiality Rank: 4399
- Expression level (log2 read counts): 5.81
TBC1D24 Expression in NALM6 Cells: 5.81
