Background:

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 dup(22)(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.

Applications:

ELISA, WB, IHC

Name of antibody:

TMEM121B

Immunogen:

Synthetic peptide of human TMEM121B

Full name:

transmembrane protein 121B

Synonyms:

CECR6

SwissProt:

Q9BXQ6

IHC positive control:

Human esophagus cancer and Human lung cancer

IHC Recommend dilution:

20-100

WB Predicted band size:

58 kDa

WB Positive control:

Human heart tissue lysate

WB Recommended dilution:

200-1000