FBF1
Description
The FBF1 (Fas binding factor 1) is a protein-coding gene located on chromosome 17.
FBF1 is a keratin-binding protein essential for epithelial cell polarization. It plays a role in the assembly of apical junction complexes (AJCs) by interacting with PARD3. FBF1 is also required for ciliogenesis.
FBF1 is also known as Alb, FBF-1.
Associated Diseases
- asthma
- diabetes mellitus, permanent neonatal 4
- permanent neonatal diabetes mellitus 1
- Short stature, Dauber-Argente type
- hyperinsulinism due to INSR deficiency
- obesity due to melanocortin 4 receptor deficiency
- congenital analbuminemia
- familial partial lipodystrophy, Dunnigan type
- autosomal recessive hyperinsulinism due to Kir6.2 deficiency
