p95/NBS1(Phospho-Ser343) Rabbit Polyclonal Antibody, 50ul Culture Media belonging to the CD2 subfamily

belonging to the CD2 subfamily of the immunoglobulin superfamily

In some beta-thalassemias and related conditions| gamma chain production continues into adulthood

Alternatively spliced transcript variants encoding multiple isoforms have been observed for MARK4

unlike beta 1 chain

Mutations in this gene can cause fumarase deficiency and lead to progressive encephalopathy

p95/NBS1(Phospho-Ser343) Rabbit Polyclonal Antibody, 50ul Culture Media belonging to the CD2 subfamilyMutations in this gene are associated with Nijmegen breakage syndrome an autosomal recessive chromosomal instability syndrome characterized by microcephaly growth retardation immunodeficiency and cancer predisposition. The encoded protein is a member of the MRE11 RAD50 double strand break repair complex which consists of 5 proteins. This gene product is thought to be involved in DNA double strand break repair and DNA damage induced checkpoint