anti-TBC1 Domain Family, Member 24 (TBC1D24) Antibodies

TBC1D24 encodes a protein with a conserved domain, referred to as the TBC domain, characteristic of proteins which interact with GTPases. Additionally we are shipping TBC1D24 Proteins (3) and and many more products for this protein.

list all antibodies Gene Name GeneID UniProt
TBC1D24 287110  
TBC1D24 57465 Q9ULP9
TBC1D24 224617 Q3UUG6
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Top anti-TBC1D24 Antibodies at antibodies-online.com

Showing 10 out of 10 products:

Catalog No. Reactivity Host Conjugate Application Images Quantity Delivery Price Details
Cow Rabbit Un-conjugated WB WB Suggested Anti-TBC1D24 Antibody Titration: 0.2-1 ug/mlELISA Titer: 1:1562500Positive Control: Human kidney 100 μL 2 to 3 Days
$319.00
Details
Guinea Pig Rabbit Un-conjugated WB 100 μL 11 to 14 Days
$581.17
Details
Human Rabbit Un-conjugated WB TBC1D24 antibody used at 1 ug/ml to detect target protein. 50 μg 9 to 11 Days
$449.29
Details
Human Rabbit Un-conjugated IHC (p) Immunohistochemical staining of human stomach with TBC1D24 polyclonal antibody  shows strong cytoplasmic positivity in glandular cells at 1:200-1:500 dilution. 100 μL 11 to 12 Days
$577.33
Details
Human Rabbit Biotin ELISA   100 μg 11 to 16 Days
$469.05
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Human Rabbit FITC ELISA   100 μg 11 to 16 Days
$469.05
Details
Human Rabbit HRP ELISA   100 μg 11 to 16 Days
$469.05
Details
Human Rabbit Un-conjugated ELISA, IF/ICC, IHC   100 μg 11 to 16 Days
$469.05
Details
Human Rabbit Un-conjugated ELISA, IF, WB   100 μg 13 to 16 Days
$430.77
Details
Human Rabbit Un-conjugated ELISA, IF/ICC, WB   100 μg 11 to 18 Days
$568.54
Details

Top referenced anti-TBC1D24 Antibodies

  1. Cow (Bovine) Polyclonal TBC1D24 Primary Antibody for WB - ABIN2787224 : Lozano, Herman, Rothfuss, Rieger, Bayrak-Toydemir, Aprile, Fruscione, Zara, Fassio: Clinical intrafamilial variability in lethal familial neonatal seizure disorder caused by TBC1D24 mutations. in American journal of medical genetics. Part A 2016 (PubMed)

  2. Human Polyclonal TBC1D24 Primary Antibody for ICC, IF - ABIN4357981 : Tona, Chen, Nakano, Reyes, Petralia, Wang, Starost, Wafa, Morell, Cravedi, du Hoffmann, Miyoshi, Munasinghe, Fitzgerald, Chudasama, Omori, Pierpaoli, Banfi, Dong, Belyantseva, Friedman: The phenotypic landscape of a Tbc1d24 mutant mouse includes convulsive seizures resembling human early infantile epileptic encephalopathy. in Human molecular genetics 2019 (PubMed)

More Antibodies against TBC1D24 Interaction Partners

Human TBC1 Domain Family, Member 24 (TBC1D24) interaction partners

  1. eight individuals with epilepsy and developmental delay who share overlapping microdeletions at 16p13.3 including TBC1D24, ATP6V0C, and PDPK1

  2. We then further investigated TBC1D24 haploinsufficiency in vivo and demonstrate that TBC1D24 is also crucial for normal presynaptic function: genetic disruption of Tbc1d24 expression in the mouse leads to an impairment of endocytosis and an enlarged endosomal compartment in neurons with a decrease in spontaneous neurotransmission.

  3. he clinical feature of TBC1D24 gene mutation related epilepsy was focal myoclonus, and tended to develop into myoclonic status epilepticus, and could be aggravated by infections, and terminated by sleep or sedation drugs.

  4. TBC1d24-ephrinB2 interaction regulates contact inhibition of locomotion in neural crest cell migration

  5. Silencing TBC1D24 inhibited MCF-7 cells growth in vitro and in vivo. TBC1D24 promoted breast carcinoma growth through the IGF1R/PI3K/AKT pathway.

  6. We identified a homozygous single base alteration, c.1415 G>A;p.G428R, in TBC1D24 gene. This mutation was found in the proband's parents and elder sister as heterozygous. The c.1415G>A mutation has not been reported previously. The c.1415G>A was considered to be damaging by SIFT software

  7. Here, we present a familial case of a lethal early-onset epileptic encephalopathy, associated with two novel compound heterozygous missense variants on the TBC1D24 gene, which were detected by exome sequencing

  8. TBC1D24-related epilepsy syndromes show marked phenotypic pleiotropy, with multisystem involvement and severity spectrum ranging from isolated deafness (not studied here), benign myoclonic epilepsy restricted to childhood with complete seizure control and normal intellect, to early-onset epileptic encephalopathy with severe developmental delay and early death

  9. TBC1D24-related epilepsy can manifest with hypotonia, developmental delays, and a variety of focal-onset seizures.

  10. mutations in TBC1D24 gene are a frequent cause (>2%) of NSHL in Morocco

  11. This report supports previous observations that mutations in TBC1D24 cause diverse phenotypes

  12. TBC1D24 mutation causes autosomal-dominant nonsyndromic hearing loss.

  13. that the p.Ser178Leu mutation of TBC1D24 is a probable cause for dominant, nonsyndromic hearing impairment. Identification of TBC1D24 as the stereocilia-expressing gene may shed new light on its specific function in the inner ear.

  14. Novel variations in TBC1D24 do not allow prediction of functional phenotypes that might explain, at least in part, the symptoms of malignant migrating partial seizures of infancy (MMPSI).

  15. Recessive alleles of TBC1D24 can cause either epilepsy or nonsyndromic deafness in human.

  16. Mutations in TBC1D24 seem to be an important cause of DOORS syndrome and can cause diverse phenotypes.

  17. A TBC1D24 mutation associated with focal epilepsy, cognitive impairment and cerebro-cerebellar malformation is found in a family with a homozygous TBC1D24 mutation.

  18. we describe a familial form of MMPSI due to mutation in TBC1D24, revealing a devastating epileptic phenotype associated with TBC1D24 dysfunction.

  19. Findings expand the spectrum of the TBC1D24 mutation phenotype and the transcript isoforms.

  20. Two compound heterozygous missense mutations (D147H and A509V) in TBC1D24, a gene of unknown function, are responsible for familial infantile myoclonic epilepsy.

Mouse (Murine) TBC1 Domain Family, Member 24 (TBC1D24) interaction partners

  1. We then further investigated TBC1D24 haploinsufficiency in vivo and demonstrate that TBC1D24 is also crucial for normal presynaptic function: genetic disruption of Tbc1d24 expression in the mouse leads to an impairment of endocytosis and an enlarged endosomal compartment in neurons with a decrease in spontaneous neurotransmission.

  2. that the p.Ser178Leu mutation of TBC1D24 is a probable cause for dominant, nonsyndromic hearing impairment. Identification of TBC1D24 as the stereocilia-expressing gene may shed new light on its specific function in the inner ear.

  3. Two compound heterozygous missense mutations (D147H and A509V) in TBC1D24, a gene of unknown function, are responsible for familial infantile myoclonic epilepsy.

  4. A pathogenic mutation was identified in TBC1D24.

TBC1D24 Antigen Profile

Protein 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.

Gene names and symbols associated with TBC1D24

  • TBC1 domain family, member 24 (Tbc1d24) antibody
  • ATPase H+ transporting V0 subunit c (ATP6V0C) antibody
  • TBC1 domain family member 24 (TBC1D24) antibody
  • TBC1 domain family member 24 L homeolog (tbc1d24.1.L) antibody
  • 9630033P11 antibody
  • C530046L02Rik antibody
  • EIEE16 antibody
  • FIME antibody
  • mKIAA1171 antibody
  • RGD1306143 antibody
  • tbc1d24 antibody
  • TLDC6 antibody

Protein level used designations for TBC1D24

TBC1 domain family member 24 , TBC1 domain family, member 24 , putative vacuolar H+ ATP synthase 16 kDa proteolipid subunit variant 1 , TBC/LysM-associated domain containing 6

GENE ID SPECIES
287110 Rattus norvegicus
416753 Gallus gallus
467874 Pan troglodytes
609726 Canis lupus familiaris
100065761 Equus caballus
100221539 Taeniopygia guttata
57465 Homo sapiens
224617 Mus musculus
529002 Bos taurus
100036814 Xenopus laevis
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