TBC24_HUMAN
Source:
PM23856902
BSc_CH
PM22954596
Marked as 'Membrane associated protein'
Confidence:
high (present in two of the MS resources)
Search PubMed for
(RBC AND this entry)
Gene names:
TBC1D24
, KIAA1171
Protein names and data:
TBC24_HUMAN
, TBC1 domain family member 24
Lenght: 559 a.a.
Mass: 62919 Da
fasta formatted sequence
Function:
May act as a GTPase-activating protein for Rab family protein(s). Involved in neuronal projections development, probably through a negative modulation of ARF6 function.
Disease:
( OMIM:
605021
613577
615338
)
Familial infantile myoclonic epilepsy (FIME) [MIM:605021]: A subtype of idiopathic epilepsy starting in early infancy and manifesting as myoclonic seizures, febrile convulsions, and tonic-clonic seizures. Note=The disease is caused by mutations affecting the gene represented in this entry. Epileptic encephalopathy, early infantile, 16 (EIEE16) [MIM:615338]: A severe autosomal recessive neurologic disorder characterized by onset of seizures in the first weeks or months of life. Seizures can be of various types, are unresponsive to medication, last for long periods of time, and occur frequently. Affected infants show psychomotor regression or lack of psychomotor development, as well as other neurologic features such as extrapyramidal signs and hypotonia. Most die in childhood. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location:
Cytoplasm. Note=Partially expressed at the plasma membrane.
Tissue specificity:
Highest expression in brain.
Genetic variants
147 - 147
D -> H (in FIME; signicantly impairs the interaction with ARF6; partially induces neurite overgrowth when overexpressed in primary cortical neurons). VAR_064365
229 - 229
F -> S (in EIEE16; loss of function mutation; impairs the interaction with ARF6; overexpression of the mutant protein in primary cortical neurons abolishes the ability to increase neurite length and arborization). VAR_070102
251 - 251
F -> L (in FIME; fails to induce neurite overgrowth when overexpressed in primary cortical neurons). VAR_064366
515 - 515
A -> V (in FIME; does not affect the interaction with ARF6; fails to induce neurite overgrowth when overexpressed in primary cortical neurons). VAR_064367
Database cross-references
UniProt:
Q9ULP9
Ensembl:
ENST00000293970
Ensembl:
ENST00000434757
Ensembl:
ENST00000567020
MIM:
605021
MIM:
613577
MIM:
615338
neXtProt:
NX_Q9ULP9
Antibodypedia:
Q9ULP9
(may not find the protein thus also not any antibody)
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