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CLTCL1

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]
Protein class

Cancer-related genes, Plasma proteins, Transporters

Predicted location

Intracellular

Single cell type specificity

Cell type enhanced (Early spermatids, Late spermatids, Cone photoreceptor cells, Spermatocytes, Oligodendrocytes, Oligodendrocyte precursor cells, Cardiomyocytes)

Immune cell specificity

Group enriched (neutrophil, classical monocyte)

Cell line specificity

Cell line enhanced (HMC-1, K-562)

Interaction

Clathrin triskelions, composed of 3 heavy chains and 3 light chains, are the basic subunits of the clathrin coat (By similarity). In the presence of light chains, hub assembly is influenced by both the pH and the concentration of calcium (Probable). May interact with OCRL (By similarity). Interacts with AFTPH/aftiphilin (PubMed:15758025).

More Types Infomation

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For Research Use Only. Not For Clinical Use.

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