CLN3 Polyclonal Antibody, 20ul Stepper Mutations in PMS1 cause hereditary

Mutations in PMS1 cause hereditary nonpolyposis colorectal cancer type 3 (HNPCC3) either alone or in combination with mutations in other genes involved in the HNPCC phenotype

Cleavage occurs at the

When the function of this gene is lost

Carboxypeptidase B1 is a highly tissue-specific protein and is a useful serum marker for acute pancreatitis and dysfunction of pancreatic transplants

CLN3 Polyclonal Antibody, 20ul Stepper Mutations in PMS1 cause hereditaryThis gene encodes a protein that is involved in lysosomal function. Mutations in this, as well as other neuronal ceroid lipofuscinosis (CLN) genes, cause neurodegenerative diseases commonly known as Batten disease or collectively known as neuronal ceroid lipofuscinoses (NCLs). Many alternatively spliced transcript variants have been found for this gene.