APTX Polyclonal Antibody, 20ul Tubes an intronic CTG repeat normally

an intronic CTG repeat normally numbering 10-37 repeat units can expand to >50 repeat units and cause Fuchs endothelial corneal dystrophy

It may play an important role in hemopoietic differentiation

and shows minimal 3-alpha-hydroxysteroid dehydrogenase activity

The encoded protein (eomesodermin) is a transcription factor which is crucial for embryonic development of mesoderm and the central nervous system in vertebrates

APTX Polyclonal Antibody, 20ul Tubes an intronic CTG repeat normallyThis gene encodes a member of the histidine triad (HIT) superfamily. The encoded protein may play a role in single stranded DNA repair through its nucleotide binding activity and its diadenosine polyphosphate hydrolase activity. Mutations in this gene have been associated with ataxia ocular apraxia. Alternatively spliced transcript variants have been identified for this gene.