KLHL2
Description
The KLHL2 (kelch like family member 2) is a protein-coding gene located on chromosome 4.
Kelch-like family member 2 is a protein that in humans is encoded by the KLHL2 gene.
KLHL2 is a substrate-specific adapter protein that functions as a component of the BCR (BTB-CUL3-RBX1) E3 ubiquitin ligase complex. This complex mediates the ubiquitination and degradation of target proteins such as NPTXR, WNK1, WNK3 and WNK4, leading to their proteasomal degradation. KLHL2 also plays a role in the reorganization of the actin cytoskeleton and promotes the growth of cell projections in oligodendrocyte precursors.
KLHL2 is also known as ABP-KELCH, MAV, MAYVEN.
Associated Diseases
- familial idiopathic steroid-resistant nephrotic syndrome
- cancer
- nephronophthisis
- nephrotic syndrome, IIa 26
- congenital membranous nephropathy due to maternal anti-neutral endopeptidase alloimmunization
- multicystic dysplastic kidney
- alpha thalassemia-intellectual disability syndrome type 1
