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Rabbit Anti-TBCE/FITC Conjugated antibody
background:
Microtubules, the primary component of the cytoskeletal network, are highly dynamic structures composed of Alpha/Beta Tubulin heterodimers. Biosynthesis of functional microtubules involve the participation of several chaperones, termed Tubulin folding cofactors A (TBCA), D (TBCD), E (TBCE) and C (TBCC), that act on folding intermediates downstream of the cytosolic chaperon, alternatively named TCP. TBCE (tubulin folding cofactor E), also known as HRD, KCS, KCS1 or pac2, is a 527 amino acid cytoplasmic protein containing one CAP-Gly domain and seven LRR (leucine-rich) repeats. TBCE is involved in the second step of the Tubulin folding pathway and is implicated in the maintenance of the neuronal microtubule network. TBCE associates with microtubules and proteasomes, and protects against misfolded protein stress. Mutations in the gene encoding TBCE are the cause of hypoparathyroidism-retardation-dysmorphism syndrome and Kenny-Caffey syndrome type 1.
Function:
Tubulin-folding protein; involved in the second step of the tubulin folding pathway. Seems to be implicated in the maintenance of the neuronal microtubule network. Involved in regulation of tubulin heterodimer dissociation.
Subunit:
Supercomplex made of cofactors A to E. Cofactors A and D function by capturing and stabilizing tubulin in a quasi-native conformation. Cofactor E binds to the cofactor D-tubulin complex; interaction with cofactor C then causes the release of tubulin polypeptides that are committed to the native state. Cofactors B and E can form a heterodimer which binds to alpha-tubulin and enhances their ability to dissociate tubulin heterodimers.
Subcellular Location:
Cytoplasm (By similarity). Cytoplasm, cytoskeleton (By similarity).
DISEASE:
Defects in TBCE are a cause of hypoparathyroidism-retardation-dysmorphism syndrome (HRD) [MIM:241410]; also known as hypoparathyroidism with short stature, mental retardation, and seizures or Sanjad-Sakati syndrome. HRD is an autosomal recessive disorder reported almost exclusively in Middle Eastern populations.
Defects in TBCE are the cause of Kenny-Caffey syndrome type 1 (KCS1) [MIM:24492]. KCS1 is similar to HRD with the additional features of osteosclerosis and recurrent bacterial infections.
Similarity:
Belongs to the TBCE family.
Contains 1 CAP-Gly domain.
Contains 7 LRR (leucine-rich) repeats.
Contains 1 LRRCT domain.
Database links:
Entrez Gene: 6905 Human
Entrez Gene: 70430 Mouse
Entrez Gene: 361255 Rat
Omim: 604934 Human
SwissProt: Q15813 Human
SwissProt: Q8CIV8 Mouse
SwissProt: Q5FVQ9 Rat
Unigene: 727621 Human
Unigene: 260209 Mouse
Unigene: 3547 Rat
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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