Aliases for LMF1 Gene
External Ids for LMF1 Gene
Previous HGNC Symbols for LMF1 Gene
Previous GeneCards Identifiers for LMF1 Gene
The protein encoded by this gene resides in the endoplasmic reticulum, and is involved in the maturation and transport of lipoprotein lipase through the secretory pathway. Mutations in this gene are associated with combined lipase deficiency. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, May 2010]
GeneCards Summary for LMF1 Gene
LMF1 (Lipase Maturation Factor 1) is a Protein Coding gene. Diseases associated with LMF1 include Lipase Deficiency, Combined and Familial Lipoprotein Lipase Deficiency. Among its related pathways are Metabolism and Lipoprotein metabolism. An important paralog of this gene is LMF2.
UniProtKB/Swiss-Prot for LMF1 Gene
Involved in the maturation of specific proteins in the endoplasmic reticulum. Required for maturation and transport of active lipoprotein lipase (LPL) through the secretory pathway. Each LMF1 molecule chaperones 50 or more molecules of LPL.