Synthesized peptide derived from human CLH2 AA range: 893-943

This antibody detects endogenous levels of CLH2 at Human

CLTCL1 CLH22 CLTCL CLTD

CLH2

This gene is a member of the clathrin heavy chain family and encodes a major protein of the polyhedral coat of coated pits and vesicles. Chromosomal aberrations involving this gene are associated with meningioma, DiGeorge syndrome, and velo-cardio-facial syndrome. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2009],

Disease:May play a role in the hypotonia seen in velo-cardio-facial syndrome (VCFS).,Domain:The C-terminal third of the heavy chains forms the hub of the triskelion. This region contains the trimerization domain and the light-chain binding domain involved in the assembly of the clathrin lattice.,Function:Clathrin is the major protein of the polyhedral coat of coated pits and vesicles. Two different adapter protein complexes link the clathrin lattice either to the plasma membrane or to the trans-Golgi network.,similarity:Belongs to the clathrin heavy chain family.,subcellular location:Cytoplasmic face of coated pits and vesicles.,subunit:Clathrin triskelions, composed of 3 heavy chains and 3 light chains, are the basic subunits of the clathrin coat. In the presence of light chains, hub assembly is influenced by both the pH and the concentration of calcium.,tissue specificity:Maximal levels in skeletal muscle. High levels in heart and testis. Low expression detected in all other tissues.,

Cytoplasmic vesicle membrane ; Peripheral membrane protein ; Cytoplasmic side . Membrane, coated pit ; Peripheral membrane protein ; Cytoplasmic side . Cytoplasmic face of coated pits and vesicles. .

Maximal levels in skeletal muscle. High levels in heart and testis. Low expression detected in all other tissues.

>>Lysosome ;
>>Endocytosis ;
>>Synaptic vesicle cycle ;
>>Endocrine and other factor-regulated calcium reabsorption ;
>>Huntington disease ;
>>Bacterial invasion of epithelial cells