AES Polyclonal Antibody, 20ul Cell Biology an autosomal recessive congenital myopathy

an autosomal recessive congenital myopathy that is more severe than Bethlem myopathy

Alternatively spliced transcripts encoding the same protein have been identified

The use of alternate polyadenylation sites has been found for this gene

The protein encoded by this gene is a secreted

Correct glycosylation of the encoded protein may be critical to its sialyltransferase activity

AES Polyclonal Antibody, 20ul Cell Biology an autosomal recessive congenital myopathyThe protein encoded by this gene is similar in sequence to the amino terminus of Drosophila enhancer of split groucho a protein involved in neurogenesis during embryonic development. The encoded protein which belongs to the groucho TLE family of proteins can function as a homooligomer or as a heteroologimer with other family members to dominantly repress the expression of other family member genes. Three transcript variants encoding different isoforms