TBC1D24

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

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RefSeq (protein)

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Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

TBC1 domain family, member 24 is a protein that in humans is encoded by the TBC1D24 gene.[1]

Function

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.

Mutations in TBC1D24 cause Hereditary hearing loss .[2]

References

  1. "Entrez Gene: TBC1 domain family, member 24".
  2. Azaiez H, Booth KT, Bu F, Huygen P, Shibata SB, Shearer AE, Kolbe D, Meyer N, Black-Ziegelbein EA, Smith RJ (July 2014). "TBC1D24 mutation causes autosomal-dominant nonsyndromic hearing loss". Human Mutation. 35 (7): 819–23. doi:10.1002/humu.22557. PMC 4267685. PMID 24729539.

Further reading

This article incorporates text from the United States National Library of Medicine, which is in the public domain.



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