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

The PWWP2B protein is phosphorylated upon DNA damage

DHRS2 (dehydrogenase/reductase (SDR family) member 2)

The protein encoded by this gene may play a role in the attachment of stem cells to the bone marrow extracellular matrix or to stromal cells

and shows minimal 3-alpha-hydroxysteroid dehydrogenase activity

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.