TBC1 domain family, member 24 is a
protein that in humans is encoded by the TBC1D24
gene.[5]
Function
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.
TBC1 domain family, member 24 is a
protein that in humans is encoded by the TBC1D24
gene.[5]
Function
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.