| Modification Notes |
LMF2 (Lipase maturation factor 2), also known as TMEM112B (Transmembrane protein 112B) and TMEM153 (Transmembrane protein 153), is a 707 amino acid multi-pass membrane protein that localizes to the endoplasmic reticulum (ER) and belongs to the lipase maturation family. LMF2 is involved in the maturation of ER-localized proteins and is required for the transport of active LPL (lipoprotein lipase) through the secretory pathway. The gene encoding LMF2 maps to human chromosome 22, contains over 500 genes and about 49 million bases. Being the second smallest human chromosome, 22 contains a surprising variety of interesting genes. Phelan-McDermid syndrome, Neurofibromatosis type 2 and autism are associated with chromosome 22. A schizophrenia susceptibility locus has been identified on chromosome 22 and studies show that 22q11 deletion symptoms include a high incidence of schizophrenia. There are three isoforms of LMF2 that are expressed as a result of alternative splicing events. |