glis2b antibody, nkl-A antibody, xNKLb antibody, NKL antibody, NPHP7 antibody, Gli5 antibody, Klf16 antibody, Nkl antibody, glis2a antibody, nphp7 antibody, GLIS family zinc finger 2 L homeolog antibody, GLIS family zinc finger 2 antibody, GLIS family zinc finger 2 S homeolog antibody, glis2.L antibody, GLIS2 antibody, Glis2 antibody, glis2.S antibody
背景
This gene is a member of the GLI-similar zinc finger protein family and encodes a nuclear transcription factor with five C2H2-type zinc finger domains. The protein encoded by this gene is widely expressed at low levels in the neural tube and peripheral nervous system and likely promotes neuronal differentiation. It is abundantly expressed in the kidney and may have a role in the regulation of kidney morphogenesis. p120 regulates the expression level of this protein and induces the cleavage of this protein's C-terminal zinc finger domain. This protein also promotes the nuclear translocation of p120. Mutations in this gene cause nephronophthisis (NPHP), an autosomal recessive kidney disease characterized by tubular basement membrane disruption, interstitial lymphohistiocytic cell infiltration, and development of cysts at the corticomedullary border of the kidneys.Synonyms: GLI-similar 2, NKL, Neuronal Krueppel-like protein, Zinc finger protein GLIS2