Description
Product Characteristics: MLC1 (Myosin Light Chain 1) contains two EFh domain. EF-hand is calcium binding motif which belongs to a diverse superfamily of calcium sensors and calcium signal modulators, most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif.
Target Information: The function of this gene product is unknown\, however, homology to other proteins suggests that it may be an integral membrane transporter. Mutations in this gene have been associated with megalencephalic leukoencephalopathy with subcortical cysts, an autosomal recessive neurological disorder. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]