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Email: info@nsjbio.com
- Tel: 858.663.9055
- Email: info@nsjbio.com
Haloacid dehalogenase-like hydrolase domain-containing 5 (HDHD5), also called Cat eye syndrome critical region protein 5 (CECR5), is a candidate gene for the Cat Eye Syndrome (CES), a developmental disorder associated with the duplication of a 2 Mb region of 22q11.2. Duplication usually takes in the form of a surpernumerary bisatellited isodicentric chromosome, resulting in four copies of the region (represents an inv dup22(q11)). CES is characterized clinically by the combination of coloboma of the iris and anal atresia with fistula, downslanting palpebral fissures, preauricular tags and/or pits, frequent occurrence of heart and renal malformations, and normal or near-normal mental development. [UniProt]
Optimal dilution of the HDHD5 antibody should be determined by the researcher.
An E.coli-derived human recombinant protein (amino acids A12-E423) was used as the immunogen for the HDHD5 antibody.
After reconstitution, the HDHD5 Antibody can be stored for up to one month at 4oC. For long-term, aliquot and store at -20oC. Avoid repeated freezing and thawing.
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