TBC1D24 (TBC1 domain family member 24) is a 559 amino acid cytoplasmic protein that may act as a GTPase-activating protein for Rab family proteins and exists as two alternatively spliced isoforms. TBC1D24 contains one Rab-GAP TBC domain, one TLD domain and interacts with ARF6. Involved in neuronal projection development, probably through a negative modulation of ARF6 function, TBC1D24 is highly expressed in brain. TBC1D24 is also expressed in testis, skeletal muscle, heart, kidney, lung and liver. Defects in the TBC1D24 gene are the cause of familial infantile myoclonic epilepsy (FIME), which is characterized as a subtype of idiopathic epilepsy starting in early infancy and manifesting as myoclonic seizures, febrile convulsions and tonic-clonic seizures. The gene that encodes TBC1D24 contains 28,353 bases and maps to human chromosome 16p13.3.
Informations pour la commande
Nom du produit | Ref. Catalogue | COND. | Prix HT | QTÉ | Favoris | |
Anticorps TBC1D24 (D-5) | sc-390377 | 200 µg/ml | $316.00 | |||
TBC1D24 (D-5): m-IgGκ BP-HRP Kit | sc-550759 | 200 µg Ab; 40 µg BP | $354.00 | |||
TBC1D24 (D-5) peptide neutralisant | sc-390377 P | 100 µg/0.5 ml | $68.00 |