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Gene : TBC1D24 Homo sapiens

Name  ? TBC1 domain family member 24 Cytological Location  16p13.3
Brief Description  TBC1 domain family member 24
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. Mutations in this gene are associated with familial infantile myoclonic epilepsy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2011]
  • synonyms:
  • TLDC6,
  • skywalker homolog (Drosophila),
  • TBC1 domain family, member 24,
  • NM_020705,
  • DOORS,
  • FIME,
  • OTTHUMG00000177150,
  • HGNC:29203,
  • DFNB86,
  • DFNB86,
  • EIEE16,
  • TBC1D24,
  • DFNA65,
  • TLDC6,
  • uc002cqk.4,
  • AB032997,
  • deafness, autosomal recessive 86,
  • DFNA65,
  • TBC/LysM-associated domain containing 6,
  • KIAA1171
  • identifiers:
  • 57465,
  • ENSG00000162065,
  • TBC1D24

Genome feature

Region: gene ? Length: 34566  
Location: 16:2475104-2509669 Cyto location: 16p13.3

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6 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]


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Gene --> GO terms.



479 SN Ps

5 Cross References

17 Data Sets

5 Homologues

0 Located Features

97 Rna Seq Results