1. Gene
  2. TBC1D24 - TBC1 domain family member 24 Gene

TBC1D24 - TBC1 domain family member 24 Gene

Homo sapiens

Also known as FIME; DEE16; DOORS; TLDC6; DFNA65; DFNB86; EIEE16; EPRPDC

Gene ID: 57465 | Gene type: protein coding

About TBC1D24

Cytogenetic location: 16p13.3 Genomic coordinates (GRCh38): 16:2,475,127-2,505,730 (from NCBI)

This gene has 10 transcripts (splice variants), 204 orthologues and is associated with 16 phenotypes. Ubiquitous expression in brain (RPKM 4.4), kidney (RPKM 3.5) and 25 other tissues.

Summary

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]

TBC1D24 Products(2)

mRNA Protein Name
NM_001199107.2 NP_001186036.1 TBC1 domain family member 24 isoform 1
NM_020705.3 NP_065756.1 TBC1 domain family member 24 isoform 2

TBC1D24 Protein Structure

RabGAP-TBC

RabGAP-TBC: Rab-GTPase-TBC domain (107 - 253)

TLD

TLD: TLD (368 - 444)

TLD

TLD: TLD (492 - 554)

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  • 559 a.a.
Protein Preferred Names Protein Names

TBC1 domain family member 24

TBC/LysM-associated domain containing 6

Related Diseases

Diseases Alias
Developmental And Epileptic Encephalopathy 16

DEE16

Epileptic Encephalopathy, Early Infantile, 16

Eiee16

Developmental And Epileptic Encephalopathy, 16

Early Infantile Epileptic Encephalopathy 16

Progressive Myoclonic Epilepsy With Dystonia

Pmed

Progressive Myoclonus Epilepsy With Dystonia

Encephalopathy, Epileptic, Early Infantile, Type 16

Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, And Seizures Syndrome

Door Syndrome

Doors Syndrome

Digitorenocerebral Syndrome

Autosomal Recessive Deafness-Onychodystrophy Syndrome

Deafness-Onychoosteodystrophy-Intellectual Disability Syndrome

DOORS

Drc Syndrome

Eronen Syndrome

Deafness-Onychodystrophy-Osteodystrophy-Intellectual Disability Syndrome

Brachydactyly Due To Absence Of Distal Phalanges

Deafness-Onychodystrophy-Osteodystrophy-Intellectual Disability-Seizures Syndrome

Deafness, Onychodystrophy, Osteodystrophy, And Mental Retardation Syndrome

Deafness-Oncychodystrophy-Osteodystrophy-Intellectual Disability Syndrome

Autosomal Recessive Hearing Loss-Onychodystrophy Syndrome

Hearing Loss-Onychodystrophy-Osteodystrophy-Intellectual Disability Syndrome

Hearing Loss-Onychodystrophy-Osteodystrophy-Intellectual Disability-Seizures Syndrome

Hearing Loss-Onychoosteodystrophy-Intellectual Disability Syndrome

Deafness, Onychodystrophy, Osteodystrophy, Intellectual Disability, And Seizures Syndrome

Deafness, Congenital Onychodystrophy, Recessive Form

Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation Syndrome

Myoclonic Epilepsy, Familial Infantile

Familial Infantile Myoclonic Epilepsy

FIME

Eim

Myoclonic Epilepsy, Infantile, Familial

Familial Infantile Myoclonus Epilepsy

Epilepsy, Myoclonic, Infantile, Familial

Epilepsy, Myoclonic, Infantile

Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp

Rolandic Epilepsy-Paroxysmal Exercise-Induced Dystonia-Writer'S Cramp Syndrome

EPRPDC

Re-Ped-Wc

Epilepsy, Rolandic, With Proxysmal Exercise-Induce Dystonia And Writer'S Cramp

Epilepsy, Rolandic, With Paroxysmal Exercise-Induce Dystonia And Writer'S Cramp

Rolandic Epilepsy With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp

Rolandic-Type Focal Motor Epilepsy And Exercise-Induced Dystonia

Rolandic Epilepsy Exercise-Induced Dystonia

Epilepsy, Rolandic With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp

Deafness, Autosomal Recessive 86

DFNB86

Autosomal Recessive Nonsyndromic Deafness 86

Autosomal Recessive Deafness 86

Deafness, Autosomal Recessive, 86

Deafness, Nonsyndromic, Autosomal Recessive, Type 86

Deafness, Autosomal Dominant 65

DFNA65

Autosomal Dominant Nonsyndromic Deafness 65

Autosomal Dominant Deafness 65

Deafness, Autosomal Dominant, 65

Deafness, Autosomal Dominant, Type 65

Periodic Paralysis

Westphal Disease

Periodic Myotonia

Myoplegic Dystrophy

Familial Recurrent Paralysis

Familial Myoplegia

Cavare Disease

Cavarre Disease

Familial Paralysis

Familial Periodic Paralysis

Myotonic Periodic Paralysis

Focal Epilepsy-Intellectual Disability-Cerebro-Cerebellar Malformation

Focal Epilepsy-Intellectual Disability-Dysarthria-Ataxia Syndrome

Parkinsonism

Parkinsonism-Plus

Idiopathic Parkinsonism

Primary Parkinsonism

Paralysis Agitans Syndrome

Parkinsonian Syndrome

Trembling Paralysis

Paralysis Agitans

Shaking Palsy

Shaking Paralysis

Epilepsy, Progressive Myoclonic, 1b

EPM1B

Epilepsy, Progressive Myoclonic 1b

Prickle1-Related Progressive Myoclonus Epilepsy With Ataxia

Pme With Ataxia

Prickle1-Related Progressive Myoclonic Epilepsy With Ataxia

Progressive Myoclonic Epilepsy 1b

Progressive Myoclonus Epilepsy With Ataxia

Epilepsy, Progressive Myoclonic, Type 1b

Developmental And Epileptic Encephalopathy 1

Epileptic Encephalopathy, Early Infantile, 1

Infantile Epileptic-Dyskinetic Encephalopathy

DEE1

Eiee1

Issx1

Xmesid

X-Linked Infantile Spasm Syndrome 1

X-Linked Infantile Spasm Syndrome

X-Linked Spasticity-Intellectual Disability-Epilepsy Syndrome

Developmental And Epileptic Encephalopathy, 1

Infantile Epileptic Dyskinetic Encephalopathy

Infantile Spasm Syndrome, X-Linked 1

West Syndrome, X-Linked

Ohtahara Syndrome, X-Linked

Early Infantile Epileptic Encephalopathy 1

Early Infantile Epileptic Encephalopathy-1

Issx

X-Linked Ohtahara Syndrome

X-Linked West Syndrome

Infantile Spasm Syndrome X-Linked 1

Myoclonic Epilepsy X-Linked With Intellectual Disability And Spasticity

Ohtahara Syndrome X-Linked

West Syndrome X-Linked

Encephalopathy, Epileptic, Early Infantile, Type 1

West Syndrome

Infantile Spasms

Infantile Spasms Syndrome

Infantile Spasm

X-Linked Infantile Spasm Syndrome

X-Linked Infantile Spasms

Epileptic Encephalopathy, Early Infantile, 1

Is

Tonic Spasms With Clustering, Arrest Of Psychomotor Development And Hypsarrhythmia On Eeg

West'S Syndrome

Spasms, Infantile

Is -[Infantile Spasm]

Salaam Spasm

Salaam Tic

Myoclonic Epilepsy Of Unverricht And Lundborg

Progressive Myoclonic Epilepsy

Uld

EPM1

Pme

Epm1a

Baltic Myoclonic Epilepsy

Progressive Myoclonic Epilepsy Type 1

Unverricht-Lundborg Disease

Familial Progressive Myoclonic Epilepsy

Epilepsy, Progressive Myoclonic 1

Epilepsy, Progressive Myoclonic, 1a

Epilepsy, Progressive Myoclonic, 1

Myoclonic Epilepsy, Progressive

Epilepsy, Progressive Myoclonic 1a

Progressive Myoclonus Epilepsy Type 1

Progressive Myoclonus Epilepsy

Epilepsy Progressive Myoclonic

Progressive Myoclonic Epilepsy 1

Progressive Myoclonic Epilepsy 1a

Progressive Myoclonic Epilepsy Unverricht-Lundborg Type

Epilepsy, Myoclonic, Progressive

Epilepsy, Myoclonic, Progressive, Type 1a

Unverricht-Lundborg Syndrome

Myoclonic Epilepsies, Progressive

Benign Epilepsy With Centrotemporal Spikes

Rolandic Epilepsy

Benign Rolandic Epilepsy

Epilepsy, Rolandic

Bcects

Benign Childhood Epilepsy With Centrotemporal Spike

Sylvan Seizures

Becrs

Bects

Bre

Benign Epilepsy Of Childhood With Centrotemporal Spikes

Benign Familial Epilepsy Of Childhood With Rolandic Spikes

Centrotemporal Epilepsy

Developmental And Epileptic Encephalopathy 14

Malignant Migrating Partial Seizures Of Infancy

Eiee14

Epilepsy Of Infancy With Migrating Focal Seizures

Mmpsi

DEE14

Epileptic Encephalopathy, Early Infantile, 14

Early Infantile Epileptic Encephalopathy 14

Malignant Migrating Partial Epilepsy Of Infancy

Migrating Partial Epilepsy Of Infancy

Migrating Partial Seizures Of Infancy

Mmpei

Mpei

Mpsi

Malignant Migrating Focal Seizures Of Infancy

Migrating Partial Seizures In Infancy

Developmental And Epileptic Encephalopathy, 14

Encephalopathy, Epileptic, Early Infantile, Type 14

Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna

Autosomal Dominant Isolated Neurosensory Deafness Type Dfna

Autosomal Dominant Isolated Neurosensory Hearing Loss Type Dfna

Autosomal Dominant Isolated Sensorineural Deafness Type Dfna

Autosomal Dominant Isolated Sensorineural Hearing Loss Type Dfna

Autosomal Dominant Non-Syndromic Neurosensory Deafness Type Dfna

Autosomal Dominant Non-Syndromic Neurosensory Hearing Loss Type Dfna

Autosomal Dominant Non-Syndromic Sensorineural Hearing Loss Type Dfna

Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb

Autosomal Recessive Isolated Neurosensory Deafness Type Dfnb

Autosomal Recessive Isolated Neurosensory Hearing Loss Type Dfnb

Autosomal Recessive Isolated Sensorineural Deafness Type Dfnb

Autosomal Recessive Isolated Sensorineural Hearing Loss Type Dfnb

Autosomal Recessive Non-Syndromic Neurosensory Deafness Type Dfnb

Autosomal Recessive Non-Syndromic Neurosensory Hearing Loss Type Dfnb

Autosomal Recessive Non-Syndromic Sensorineural Hearing Loss Type Dfnb

Movement Disease

Movement Disorders

Movement Disorder

Tbc1d24-Related Disorders
Specific Learning Disability

Specific Learning Difficulty

Specific Learning Disorder

Epilepsy

Epilepsy Syndrome

Epileptic Syndrome

Epilepsies

Symptomatic Epilepsies

Post Traumatic Epilepsy

Traumatic Epilepsy

Traumatic Epileptic

Epilepsy Due To Hippocampal Sclerosis

Epilepsy With Ammon'S Horn Sclerosis

Epilepsy Due To Cortical Dysplasia

Epilepsy Due To Neuronal Migration Disorders

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

Nervous System Disease

Abnormality Of The Nervous System

Nervous System Diseases

Nervous System Disorder

Deafness, Autosomal Recessive 18a

Deafness, Autosomal Recessive 18

DFNB18A

Dfnb18

Autosomal Recessive Nonsyndromic Deafness 18a

Autosomal Recessive Deafness 18a

Deafness, Autosomal Recessive, 18a

Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 18

Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 18

Deafness, Autosomal Recessive, Type 18a

Neonatal Period Electroclinical Syndrome
Dystonia

Dystonic Disease

Dystonic Disorder

Dystonia Disorders

Neuroleptic Dyskinesia

Deafness, Autosomal Recessive 111

DFNB111

Autosomal Recessive Nonsyndromic Deafness 111

Autosomal Recessive Deafness 111

Deafness, Autosomal Recessive, 111

Developmental And Epileptic Encephalopathy 80

DEE80

Glycosylphosphatidylinositol Biosynthesis Defect 20

Gpibd20

Epileptic Encephalopathy, Early Infantile, 80

Eiee80

Developmental And Epileptic Encephalopathy, 80

Early Infantile Epileptic Encephalopathy 80

Developmental And Epileptic Encephalopathy

Encephalopathy, Developmental And Epileptic

Balanoposthitis

Balanitis Due To Infection

Early Myoclonic Encephalopathy

Myoclonic Epilepsy

Myoclonic Seizure

Epilepsies, Myoclonic

Epileptic Seizures - Myoclonic

Epileptic Seizures, Myoclonic

Myoclonia Epileptica

Myoclonic Seizure Disorder

Early Myoclonic Encephalopathy With Suppression-Bursts

Episodic Ataxia, Type 8

Episodic Ataxia Type 8

EA8

Episodic Ataxia With Slurred Speech

Epilepsy, Familial Adult Myoclonic, 3

FAME3

Fcmte3

Cortical Myoclonic Tremor With Epilepsy, Familial, 3

Familial Adult Myoclonic Epilepsy 3

Familial Cortical Myoclonic Tremor And Epilepsy 3

Epilepsy, Myoclonic, Familial Adult, Type 3

Alternating Hemiplegia Of Childhood

Alternating Hemiplegia

Ahc

Alternating Hemiplegia Syndrome

Hemiplegia, Alternating, Of Childhood

Hemiplegia, Crossed

Coffin-Siris Syndrome 1

Coffin-Siris Syndrome

Fifth Digit Syndrome

Css

CSS1

Mrd12

Mental Retardation, Autosomal Dominant 12

Hhid

Dwarfism-Onychodysplasia

Hypertrichosis, Hyperkeratosis, Mental Retardation, And Distinctive Facial Features

Autosomal Dominant Mental Retardation 12

Short Stature-Onychodysplasia.

Intellectual Disability With Absent Fifth Fingernail And Terminal Phalanx

Mental Retardation With Hypoplastic Fifth Fingernails And Toenails

Short Stature-Onychodysplasia

Coffin-Siris Syndrome, Type 1

Mental Retardation, Autosomal Dominant, Type 12

Intracranial Abscess

Abscess Of Brain

Brain Empyema

Cranial Abscess

Intracerebral Abscess

Cerebral Abscess

Cerebral Embolic Abscess

Cerebral Pyogenic Abscess

Septic Brain Infection

Temporosphenoidal Abscess

Ventricular Empyema

Intracranial Suppuration

Intracranial Vein Sinus Abscess

Sensorineural Hearing Loss

Sensory Hearing Loss

Sensorineural Deafness

Sensorineural Hearing Loss Disorder

Hearing Loss, Sensorineural

Central Hearing Loss

High Frequency Deafness

High Frequency Hearing Loss

High-Frequency Hearing Loss

Perceptive Deafness

Perceptive Hearing Loss

Perceptive Hearing Loss Or Deafness

Hearing Loss Sensorineural

Deafness Sensorineural

Hearing Loss High-Frequency

Hearing Loss, Central

Hearing Loss, High-Frequency

Progressive Myoclonus Epilepsy

Pme

Progressive Myoclonic Epilepsy

Myoclonic Epilepsies, Progressive

Unverricht-Lundborg Syndrome

Familial Febrile Seizures

Familial Febrile Convulsions

Feb

Febrile Seizures, Familial

Martsolf Syndrome 1

Martsolf Syndrome

Cataract-Intellectual Disability-Hypogonadism Syndrome

MARTS1

Marts

Cataract-Mental Retardation-Hypogonadism

Martsolf

Benign Neonatal Seizures

Benign Neonatal Epilepsy

Benign Familial Neonatal Seizures

Benign Neonatal Convulsions

Benign Familial Neonatal Convulsions

Benign Familial Neonatal Epilepsy

Bfne

Bfns

Seizures, Benign Neonatal

Neonatal Convulsions Benign

Epilepsy, Benign Neonatal

Epilepsy, Benign Neonatal, 2

Benign Familial Convulsion

Familial Benign Neonatal Epilepsy

Early Infantile Epileptic Encephalopathy

Early Infantile Epileptic Encephalopathy With Burst-Suppression

Early Infantile Epileptic Encephalopathy With Suppression Bursts

Eiee

Early Infantile Epileptic Encephalopathy With Suppression-Bursts

Ohtahara Syndrome

Encephalopathy, Epileptic, Early Infantile

Autosomal Dominant Nonsyndromic Deafness

Autosomal Dominant Deafness

Dravet Syndrome

Severe Myoclonic Epilepsy Of Infancy

Severe Myoclonic Epilepsy In Infancy

Smei

Epileptic Encephalopathy, Early Infantile, 6

DRVT

Developmental And Epileptic Encephalopathy 6a

Dee6a

Eiee6

Developmental And Epileptic Encephalopathy, 6

Dee6

Developmental And Epileptic Encephalopathy 6

Early Infantile Epileptic Encephalopathy 6

Myoclonic Epilepsy, Severe, Of Infancy

Sme

Severe Myoclonus Epilepsy Of Infancy

Borderline Smei

Smeb

Smeb-M

Smeb-O

Smeb-Sw

Smei-Borderland

Smei-Borderland More Than One Feature

Smei-Borderland-Myoclonic Seizures

Smei-Borderland-Spike Wave

Intractable Childhood Epilepsy With Generalized Tonic-Clonic Seizures

ICEGTC

Infantile Severe Myoclonic Epilepsy

Epilepsy, Intractable Childhood, With Generalized Tonic-Clonic Seizures

Autosomal Recessive Nonsyndromic Deafness

Deafness, Autosomal Recessive, Nonsyndromic

Microcephaly

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly

Lennox-Gastaut Syndrome

Lennox Syndrome

Encephalopathy Of Childhood

Epileptic Encephalopathy Lennox-Gastaut Type

Childhood Epileptic Encephalopathy With Diffuse Slow Spikes And Waves

Lgs

Chromosome 1p36 Deletion Syndrome

1p36 Deletion Syndrome

Deletion 1p36

Monosomy 1p36

Subtelomeric 1p36 Deletion

Monosomy 1p36 Syndrome

Distal Monosomy 1p36

Del(1)(P36)

Deletion 1pter

Monosomy 1pter

Childhood Absence Epilepsy

Pyknolepsy

Petit Mal Epilepsy

Absence Seizures

Absence Seizure

Petit Mal Seizure

Absence Epilepsy, Childhood

Pykno-Epilepsy

Epilepsy, Absence

Absence Epilepsy

Pycnolepsy

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Rattus norvegicus TBC1D24 RGD RGD:1306143
Felis catus TBC1D24 VGNC VGNC:107822
Mus musculus TBC1D24 MGD MGI:2443456