NP_065756.1
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NCBI GenBank Nucleotide #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
62 kDa (MW of target protein)
NCBI Official Full Name
TBC1 domain family member 24 isoform 2
NCBI Official Synonym Full Names
TBC1 domain family, member 24
NCBI Official Synonym Symbols
FIME; DOORS; TLDC6; DFNA65; DFNB86; EIEE16 [Similar Products]
NCBI Protein Information
TBC1 domain family member 24
UniProt Protein Name
TBC1 domain family member 24
UniProt Synonym Gene Names
UniProt Entry Name
TBC24_HUMAN
NCBI Summary for TBC1D24
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]
UniProt Comments for TBC1D24
TBC1D24: a putative GTPase activating protein for Rab family protein(s).
Protein type: GAPs; Cell development/differentiation; GAPs, Rab
Chromosomal Location of Human Ortholog: 16p13.3
Cellular Component: cytoplasm; terminal button; neuromuscular junction
Molecular Function: protein binding
Biological Process: neurite development
Disease: Deafness, Autosomal Recessive 86; Deafness, Autosomal Dominant 65
Research Articles on TBC1D24
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Products associated with anti-TBC1D24 antibody
Diseases associated with anti-TBC1D24 antibody
Organs/Tissues associated with anti-TBC1D24 antibody
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