Cloning and characterization of the mouse Mcoln1 gene reveals an alternatively spliced transcript not seen in humans
Abstract Background Mucolipidosis type IV (MLIV) is an autosomal recessive lysosomal storage disorder characterized by severe neurologic and ophthalmologic abnormalities.Recently the MLIV gene, MCOLN1, has been identified as a new member of the transient receptor potential (TRP) cation channel superfamily.Here we report the cloning and characteriza