•
PAX1 has been identified in mice with the development of vertebrate and embryo segmentation, and some evidence this is also true in humans. It transcribes a 440
amino acid protein from 4
exons and 1,323 in humans. In the mouse Pax1 mutation has been linked to undulated mutant suffering from skeletal malformations. •
PAX2 has been identified with
kidney and optic nerve development. It transcribes a 417 amino acid protein from 11 exons and 4,261 in humans. Mutation of PAX2 in humans has been associated with
renal-coloboma syndrome as well as
oligomeganephronia. •
PAX3 has been identified with ear, eye and facial development. It transcribes a 479 amino acid protein in humans. Mutations in it can cause
Waardenburg syndrome.
PAX3 is frequently expressed in
melanomas and contributes to tumor cell survival. •
PAX4 has been identified with pancreatic islet beta cells. It transcribes a 350 amino acid protein from 9 exons and 2,010 in humans. Knockout mice lacking Pax4 expression fail to develop insulin-producing cells. Pax4 undergoes mutual reciprocal interaction with the transcription factor Arx to endow pancreatic endocrine cells with insulin and glucagon cells respectively •
PAX5 has been identified with neural and spermatogenesis development and b-cell differentiation. It transcribes a 391 amino acid protein from 10 exons and 3,644 in humans. •
PAX6 (eyeless) is the most researched and appears throughout the literature as a "master control" gene for the development of eyes and sensory organs, certain neural and epidermal tissues as well as other
homologous structures, usually derived from
ectodermal tissues. •
PAX7 has been possibly associated with
myogenesis. It transcribes a protein of 520 amino acids from 8 exons and 2,260 in humans. PAX7 directs postnatal renewal and propagation of myogenic
satellite cells but not for the specification. •
PAX8 has been associated with
thyroid specific expression. It transcribes a protein of 451 amino acids from 11 exons and 2,526 in humans. Pax8 loss-of-function mutant mice lack follicular cells of the thyroid gland. •
PAX9 has found to be associated with a number of organ and other skeletal developments, particularly teeth. It transcribes a protein of 341 amino acids from 4 exons and 1,644 in humans. ==See also==