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]
