Gene Symbol | CLTCL1 |
Entrez Gene ID | 8218 |
Full Name | clathrin heavy chain like 1 |
Synonyms | CHC22,CLH22,CLTCL,CLTD |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: |