RB6I2 Polyclonal Antibody, 50ul Gene Synthesis Mutations in this gene are

Mutations in this gene are associated with osteogenesis imperfecta types I-IV

specifically pseudovaginal perineoscrotal hypospadias (PPSH)

Interleukin-5 plays a major role in the regulation of eosinophil formation

This kinase contains multiple functional domains

Mutations in this gene are associated with autosomal recessive distal arthrogryposis| type 5D

RB6I2 Polyclonal Antibody, 50ul Gene Synthesis Mutations in this gene areThe protein encoded by this gene is a member of a family of RIM binding proteins. RIMs are active zone proteins that regulate neurotransmitter release. This gene has been found fused to the receptor type tyrosine kinase gene RET by gene rearrangement due to the translocation t(10; 12)(q11; p13) in thyroid papillary carcinoma. Alternative splicing results in multiple transcript variants.