Description
Product Characteristics: The kit is a sandwich enzyme immunoassay for in vitro quantitative measurement of MATR3 in human tissue homogenates.
Target Information: This locus encodes a nuclear matrix protein. Mutations at this locus have been associated with distal myopathy 2, which often includes vocal cord and pharyngeal weakness. Alternatively spliced transcript variants, including read-through transcripts with an upstream locus have been described. Related pseuodgenes have been defined on chr1 and chrX.[provided by RefSeq, Mar 2011]