DYM Rabbit Polyclonal Antibody, 50ul Peptide Modification Mutations in this gene may

Mutations in this gene may result in Netherton syndrome

The encoded protein undergoes an initial autocatalytic processing event in the ER and then sorts to the trans-Golgi network through endosomes where a second autocatalytic event takes place and the Catalytic activity is acquired

The encoded protein (chloride voltage-gated channel Ka) is predicted to have 12 transmembrane domains

The protein is active alone or as a heteromultimeric assembly with TRPC1| TRPC3| and TRPC4

|Belongs to the alpha/beta interferon family

DYM Rabbit Polyclonal Antibody, 50ul Peptide Modification Mutations in this gene mayThis gene encodes a protein which is necessary for normal skeletal development and brain function. Mutations in this gene are associated with two types of recessive osteochondrodysplasia Dyggve Melchior Clausen (DMC) dysplasia and Smith McCort (SMC) dysplasia which involve both skeletal defects and mental retardation.