full name
TBC1 domain family member 24

synonyms
FIME, TLDC6, TBC1D24, ENSG00000162065

HGNC
HGNC:29203

Entrez Gene
Gene:57465

ENSEMBL
ENSG00000162065

location
chr: 16
start: 2525146
stop: 2555734
strand: +

OMIM
OMIM:613577: TBC1D24 (Autosomal recessive inheritance)
OMIM:220500: DOORS syndrome
OMIM:614617: Deafness , autosomal recessive 86
OMIM:616044: Deafness, autosomal dominant 65
OMIM:608105: Epilepsy, rolandic, with proxysmal exercise-induce dystonia and writer's cramp
OMIM:615338: Epileptic encephalopathy, early infantile, 16
OMIM:605021: Myoclonic epilepsy, infantile, familial

transcripts
NM_001199107.1
NM_020705.2

pathways
Membrane Trafficking [NCBI:1269877] [REACTOME:R-HSA-199991] [PUBMED:11031247]
TBC/RABGAPs [NCBI:1470925] [REACTOME:R-HSA-8854214] [PUBMED:16855591] [PUBMED:22251903]
Vesicle-mediated transport [NCBI:1269876] [REACTOME:R-HSA-5653656]