The protein encoded by this gene is a serine proteinase that inhibits the activity of tissue-type plasminogen activator I. The encoded protein constitutes a substantial portion of lipoprotein(a) and is proteolytically cleaved, resulting in fragments that attach to atherosclerotic lesions and promote thrombogenesis. Elevated plasma levels of this protein are linked to atherosclerosis. Depending on the individual, the encoded protein contains 2-43 copies of kringle-type domains. The allele represented here contains 15 copies of the kringle-type repeats and corresponds to that found in the reference genome sequence. (Shipping Cost: €200.00)

PIT1/POU1F1 [2C11]

Belongs to the POU transcription factor family. Class-1 subfamily. Transcription factor involved in the specification of the lactotrope, somatotrope, and thyrotrope phenotypes in the developing anterior pituitary. Activates growth hormone and prolactin genes. Specifically binds to the consensus sequence 5'-TAAAT-3'. Defects in POU1F1 are the cause of pituitary hormone deficiency combined type 1 (CPHD1). CPHD is characterized by impaired production of growth hormone (GH) and one or more of the other five anterior pituitary hormones.

PIT1/POU1F1 [2C11]