CLTC

Description

The CLTC (clathrin heavy chain) is a protein-coding gene located on chromosome 17.

Clathrin heavy chain 1 is a protein that in humans is encoded by the CLTC gene. Clathrin is a major protein component of the cytoplasmic face of intracellular organelles, called coated vesicles and coated pits. These specialized organelles are involved in the intracellular trafficking of receptors and endocytosis of a variety of macromolecules. The basic subunit of the clathrin coat is composed of three heavy chains and three light chains.

== Interactions == CLTC has been shown to interact with PICALM and HGS.

== See also == Clathrin

== References ==

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

== Further reading ==

== External links == Human CLTC genome location and CLTC gene details page in the UCSC Genome Browser.

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. Acts as a component of the TACC3/ch-TOG/clathrin complex proposed to contribute to stabilization of kinetochore fibers of the mitotic spindle by acting as inter-microtubule bridge (PubMed:15858577, PubMed:16968737, PubMed:21297582). The TACC3/ch-TOG/clathrin complex is required for the maintenance of kinetochore fiber tension (PubMed:23532825). Plays a role in early autophagosome formation (PubMed:20639872). Interaction with DNAJC6 mediates the recruitment of HSPA8 to the clathrin lattice and creates local destabilization of the lattice promoting uncoating (By similarity). {ECO:0000250|UniProtKB:P49951, ECO:0000269|PubMed:15858577, ECO:0000269|PubMed:16968737, ECO:0000269|PubMed:20639872, ECO:0000269|PubMed:21297582, ECO:0000269|PubMed:23532825}

CLTC is also known as CHC, CHC17, CLH-17, CLTCL2, Hc, MRD56.

Associated Diseases

WES Whole Exome Sequencing