QuickView for FIME (gene)

Gene Symbol:

TBC1D24 Homo sapiens

Full name:

TBC1 domain family member 24

Synonyms:

DFNA65, DFNB86, DOORS, EIEE16, FIME, TLDC6, TBC1 domain family member 24, TBC/LysM-associated domain containing 6, skywalker homolog

Genomic Location:

Chr 16: 2465148-2493500

Description:

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....

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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.

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Orthologs:

Mus musculus ,  Rattus norvegicus ,  D. melanogaster ,  C. elegans ,  Macaca mulatta ,  Danio rerio ,  Gallus gallus ,  Pan troglodytes ,  Bos taurus ,  Canis lupus familiaris

External Links:

Entrez Gene

Cytogenetic Map:

16p13.3

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