Gene Symbol | LMF1 |
Entrez Gene ID | 64788 |
Full Name | lipase maturation factor 1 |
Synonyms | C16orf26,HMFN1876,JFP11,TMEM112,TMEM112A |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. COMPLETENESS: complete on the 3' end. |
Disorder MIM: | |
Disorder Html: | Lipase deficiency, combined, 246650 (3) |