Aliases for CLTCL1 Gene
External Ids for CLTCL1 Gene
Previous HGNC Symbols for CLTCL1 Gene
Previous GeneCards Identifiers for CLTCL1 Gene
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]
GeneCards Summary for CLTCL1 Gene
CLTCL1 (Clathrin Heavy Chain Like 1) is a Protein Coding gene. Diseases associated with CLTCL1 include Congenital Insensitivity To Pain With Severe Intellectual Disability and Chromosome 22Q11.2 Microduplication Syndrome. Among its related pathways are Notch signaling pathway (KEGG) and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. GO annotations related to this gene include binding and structural molecule activity. An important paralog of this gene is CLTC.
UniProtKB/Swiss-Prot for CLTCL1 Gene
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 (By similarity).