SUMMARY, EXPLANATION AND LIMITATIONS:
Defects in PDX1 are a cause of pancreatic agenesis (PAC) [MIM: 260370]. This autosomal recessive disorder is characterized by absence or hypoplasia of pancreas, leading to early-onset insulin-dependent diabetes mellitus. This was found in a frameshift mutation that produces a truncated protein and results in a second initiation that produces a second protein that acts as a dominant negative mutant. Defects in PDX1 are a cause of non-insulin-dependent diabetes mellitus (NIDDM) [MIM: 125853]; also known as diabetes mellitus type 2. NIDDM is characterized by an autosomal dominant mode of inheritance, onset during adulthood and insulin resistance. Defects in PDX1 are the cause of maturity-onset diabetes of the young type 4 (MODY4) [MIM: 606392]; also symbolized MODY-4. MODY is a form of diabetes that is characterized by an autosomal dominant mode of inheritance, onset in childhood or early adulthood (usually before 25 years of age), a primary defect in insulin secretion and frequent insulin-independence at the beginning of the disease.
Immunogen: Recombinant fusion protein containing N-Terminal region of mouse PDX-1.
Staining pattern: Nuclear.
Positive control: Tissue sample from pancreas.
This antibody is designed for the specific localization of human PDX-1 using IHC techniques in formalin-fixed, paraffin-embedded tissue sections.