| Modification Notes |
PLEKHM2 (pleckstrin homology domain containing, family M (with RUN domain) member 2), also known as PH domain-containing family M member 2 or salmonella-induced filaments A and kinesin-interacting protein (SKIP), is a 1,019 amino acid cytoplasmic protein responsible for maintaining Golgi apparatus organization. Containing one PH domain and a single RUN domain, PLEKHM2 may control vacuolar membrane dynamics by regulating kinesin activity in the bacterial vacuole. The gene encoding PLEKHM2 maps to human chromosome 1, which spans 260 million base pairs, contains over 3,000 genes and comprises nearly 8% of the human genome. Chromosome 1 houses a large number of disease-associated genes, including those that are involved in familial adenomatous polyposis, Stickler syndrome, Parkinson’s disease, Gaucher disease, schizophrenia and Usher syndrome. |