SC65 Polyclonal Antibody, 50ul Purification Mutations in this gene cause

Mutations in this gene cause autosomal recessive spastic paraplegia 7

tyrosine-protein kinase mer

polydactyly and nephropathy

that is exclusively expressed in adult skeletal muscle

Mutations in this gene are associated with methylmalonic aciduria

SC65 Polyclonal Antibody, 50ul Purification Mutations in this gene causeThis nucleolar protein was first characterized because it was an autoantigen in cases on interstitial cystitis. The protein, with a predicted molecular weight of 50 kDa, appears to be localized in the particulate compartment of the interphase nucleolus, with a distribution distinct from that of nucleolar protein B23. During mitosis it is associated with chromosomes.