HAP1 knockout cell lines

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HAP1 Parental Cell Lines available

TBC1D24 ( Human )

Entrez Gene 57465 entrezgene 57465
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TBC1 domain family member 24

Alias

DFNA65 | DFNB86 | DOORS | EIEE16 | FIME | TLDC6

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].