Hearing impairment is a heterogeneous condition with over 40 loci described. The protein encoded by this gene is expressed in fetal cochlea, however, its function is not known. Nonsyndromic hearing impairment is associated with a mutation in this gene. Three transcript variants encoding two different isoforms have been found for this gene.
应用类型
WB, IHC, IF/ICC
免疫原
A synthetic peptide corresponding to a sequence within amino acids 200-300 of human GSDME (NP_004394.1).
