Immunogen sequence: DKAQRYADFT LLSIPYPGCE FFKEYKDRDY MAEGLIFNWK QDYVDAPLSI PDFLTHSLNI DWSQYQCWDL VQQTQNYLKL L
Highest antigen sequence identity to the following orthologs: Mouse - 94%, Rat - 95%.
This gene encodes a myotubularin-related protein. The encoded protein is a phosphoinositide phosphatase that specifically dephosphorylates phosphatidylinositol 3,5-biphosphate and phosphatidylinositol 3-phosphate. Mutations in this gene are correlated with autosomal dominant centronuclear myopathy. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 18.
蛋白别名: egg-derived tyrosine phosphatase homolog; HCV NS5A-transactivated protein 4 splice variant A-binding protein 1; hJumpy; jumpy; Myotubularin-related protein 14; NS5ATP4ABP1
基因别名: C3orf29; MTMR14
UniProt ID: (Human) Q8NCE2
Entrez Gene ID: (Human) 64419