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TBC1 Domain Family, Member 24 Proteins (TBC1D24)

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 Antibodies (3) and many more products for this protein.

list all proteins Gene Name GeneID UniProt
Rat TBC1D24 TBC1D24 287110  
TBC1D24 57465 Q9ULP9
TBC1D24 224617 Q3UUG6
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Top TBC1D24 Proteins at antibodies-online.com

Showing 3 out of 3 products:

Catalog No. Origin Source Conjugate Images Quantity Supplier Delivery Price Details
HOST_Escherichia coli (E. coli) Human His tag „Crystallography Grade“ protein due to multi-step, protein-specific purification process 1 mg Log in to see 29 to 34 Days
$4,331.68
Details
HOST_Escherichia coli (E. coli) Mouse His tag „Crystallography Grade“ protein due to multi-step, protein-specific purification process 1 mg Log in to see 29 to 34 Days
$4,331.68
Details
HOST_Human Human Un-conjugated   20 μg Log in to see 9 to 11 Days
$785.40
Details

TBC1D24 Proteins by Origin and Source

Origin Expressed in Conjugate
Human ,

Mouse (Murine)

More Proteins for TBC1 Domain Family, Member 24 (TBC1D24) Interaction Partners

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

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

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

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

  4. 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.

  5. 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).

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

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

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

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

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

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

  1. 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.

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

  3. A pathogenic mutation was identified in TBC1D24.

TBC1D24 Protein 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)
  • TBC1 domain family, member 24 (TBC1D24)
  • TBC1 domain family, member 24 (LOC100221539)
  • TBC1 domain family, member 24, gene 1 (tbc1d24.1)
  • 9630033P11 protein
  • C530046L02Rik protein
  • EIEE16 protein
  • FIME protein
  • mKIAA1171 protein
  • RGD1306143 protein
  • tbc1d24 protein
  • TLDC6 protein

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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