InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: TBC1D24

Summary

InnateDB Protein

IDBP-753973.3

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

TBC1D24

Protein Name

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000454408

InnateDB Gene

IDBG-10532 (TBC1D24)

Protein Structure

UniProt Annotation

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. {ECO:0000269PubMed:20727515, ECO:0000269PubMed:20797691}.

Subcellular Localization

Cytoplasm {ECO:0000269PubMed:20727515}. Note=Partially expressed at the plasma membrane.

Disease Associations

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. {ECO:0000269PubMed:20727515, ECO:0000269PubMed:20797691}. 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. {ECO:0000269PubMed:23526554}. Note=The disease is caused by mutations affecting the gene represented in this entry.Deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures syndrome (DOORS) [MIM:220500]: A syndrome characterized by sensorineural deafness, mental retardation, hypoplastic or absent nails, small or absent distal phalanges of hands and feet. Additional features include coarse facies, a large nose with wide nasal bridge, bulbous tip and anteverted nares, a long prominent philtrum and downturned corners of the mouth. Progressive neurological manifestations include seizures from infancy, optic atrophy, and peripheral polyneuropathy. {ECO:0000269PubMed:24291220}. Note=The disease is caused by mutations affecting the gene represented in this entry.Deafness, autosomal recessive, 86 (DFNB86) [MIM:614617]: A form of non-syndromic deafness characterized by prelingual onset of profound sensorineural hearing loss affecting all frequencies. {ECO:0000269PubMed:24387994}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Highest expression in brain. {ECO:0000269PubMed:20727515}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.