Aliases for CERT1 Gene
External Ids for CERT1 Gene
Previous HGNC Symbols for CERT1 Gene
This gene encodes a kinase that specifically phosphorylates the N-terminal region of the non-collagenous domain of the alpha 3 chain of type IV collagen, known as the Goodpasture antigen. Goodpasture disease is the result of an autoimmune response directed at this antigen. One isoform of this protein is also involved in ceramide intracellular transport. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
GeneCards Summary for CERT1 Gene
CERT1 (Ceramide Transporter 1) is a Protein Coding gene. Diseases associated with CERT1 include Mental Retardation, Autosomal Dominant 34 and Goodpasture Syndrome. Among its related pathways are Sphingolipid metabolism and Metabolism. An important paralog of this gene is PLEKHA8.
UniProtKB/Swiss-Prot Summary for CERT1 Gene
Shelters ceramides and diacylglycerol lipids inside its START domain and mediates the intracellular trafficking of ceramides and diacylglycerol lipids in a non-vesicular manner.