{"symbol":"PLEKHM1","synonyms":["OPTA3","OPTB6","AP162","B2"],"name":"pleckstrin homology domain containing, family M (with RUN domain) member 1","description":"The protein encoded by this gene is essential for bone resorption, and may play a critical role in vesicular transport in the osteoclast. Mutations in this gene are associated with autosomal recessive osteopetrosis type 6 (OPTB6). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2009]","ncbiEntrezGeneId":9842,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/9842","proteins":[{"symbol":"PKHM1_HUMAN","href":"/api/1.0/protein/PKHM1_HUMAN"}],"hgncRootFamilies":[{"name":"Pleckstrin homology domain containing (PLEKH)","href":"/api/1.0/gene_family/Pleckstrin+homology+domain+containing+%28PLEKH%29"}]}