Entrez Summary: 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.[provided by RefSeq, Apr 2010].
UniProt Summary: N/A
Pfam DomainsGO Terms
Pfam Domains
No Pfam Domain information is available for this gene.
GO Terms
phosphatidylinositol-3-phosphatase activity
ruffle
protein tyrosine phosphatase activity
peptidyl-tyrosine dephosphorylation
phosphatidylinositol biosynthetic process
macroautophagy
phosphatidylinositol metabolic process
glycerophospholipid biosynthetic process
protein dephosphorylation
glycerolipid biosynthetic process
phospholipid biosynthetic process
process utilizing autophagic mechanism
autophagy
glycerophospholipid metabolic process
dephosphorylation
phospholipid metabolic process
glycerolipid metabolic process
organophosphate biosynthetic process
lipid biosynthetic process
perinuclear region of cytoplasm
organophosphate metabolic process
cellular lipid metabolic process
lipid metabolic process
cellular catabolic process
CRISPR Data
Compound HitMost Correlated Genes in ChemogenomicsTissues where Essential in the Avana Dataset (DepMap 20Q1)