CLTC gene

clathrin heavy chain

The information on this page was automatically extracted from online scientific databases.

From NCBI 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. [provided by RefSeq, Jul 2008]

From UniProt:

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 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).

From NCBI Gene:

  • Intellectual disability, autosomal dominant 56

From UniProt:

Mental retardation, autosomal dominant 56 (MRD56): A form of mental retardation, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. [MIM:617854]

Cytogenetic Location: 17q23.1, which is the long (q) arm of chromosome 17 at position 23.1

Molecular Location: base pairs 59,619,689 to 59,696,956 on chromosome 17 (Homo sapiens Updated Annotation Release 109.20200522, GRCh38.p13) (NCBI)

Cytogenetic Location: 17q23.1, which is the long (q) arm of chromosome 17 at position 23.1
  • CHC
  • CHC17
  • CLH-17
  • CLTCL2
  • Hc
  • MRD56