MBNL1 Summary

This gene encodes a member of the muscleblind protein family which was initially described in Drosophila melanogaster. The encoded protein is a C3H-type zinc finger protein that modulates alternative splicing of pre-mRNAs. Muscleblind proteins bind specifically to expanded dsCUG RNA but not to normal size CUG repeats and may thereby play a role in the pathophysiology of myotonic dystrophy. Mice lacking this gene exhibited muscle abnormalities and cataracts. Several alternatively spliced transcript variants have been described but the full-length natures of only some have been determined. The different isoforms are thought to have different binding specificities and/or splicing activities. [provided by RefSeq, Sep 2015]

MBNL1 Details

Gene Symbol : MBNL1

Gene Name : Muscleblind like splicing regulator 1

Chromosome : CHR 3: 152,243,655-152,465,779

Locus : 3q25.1-q25.2

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ATP2C1 Summary

The protein encoded by this gene belongs to the family of P-type cation transport ATPases. This magnesium-dependent enzyme catalyzes the hydrolysis of ATP coupled with the transport of calcium ions. Defects in this gene cause Hailey-Hailey disease, an autosomal dominant disorder. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2011]

ATP2C1 Details

Gene Symbol : ATP2C1

Gene Name : ATPase secretory pathway Ca2+ transporting 1

Chromosome : CHR 3: 130,850,499-131,016,711

Locus : 3q22.1

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