GTR Home > Genes

TBC1D24 TBC1 domain family member 24

Gene ID: 57465, updated on 19-Jul-2021
Gene type: protein coding
Also known as: FIME; DEE16; DOORS; TLDC6; DFNA65; DFNB86; EIEE16; EPRPDC


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]

Genomic context

Chromosome: 16; NC_000016.10 (2475104..2509669)
Total number of exons:


IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

Support Center