FBXO2
Description
The FBXO2 (F-box protein 2) is a protein-coding gene located on chromosome 1.
FBXO2 is a protein encoded by the FBXO2 gene in humans. It belongs to the F-box protein family, characterized by an F-box motif. F-box proteins are components of the SCF (SKP1-cullin-F-box) ubiquitin protein ligase complex, which plays a role in phosphorylation-dependent ubiquitination. FBXO2 is classified as an Fbxs protein. It shares high similarity with the rat NFB42 protein, which is abundant in the nervous system and may be involved in maintaining neurons in a postmitotic state.
FBXO2 is a substrate recognition component of the SCF (SKP1-CUL1-F-box protein) E3 ubiquitin-protein ligase complex. It plays a crucial role in the endoplasmic reticulum-associated degradation (ERAD) pathway, specifically targeting misfolded lumenal proteins. FBXO2 recognizes and binds to sugar chains on unfolded glycoproteins that have been retrotranslocated into the cytosol, initiating their ubiquitination and subsequent degradation via the proteasome. This process prevents the accumulation of cytosolic aggregates of unfolded glycoproteins. FBXO2 demonstrates a preference for binding to denatured glycoproteins, particularly those with high-mannose type sugars.
FBXO2 is also known as FBG1, FBX2, Fbs1, NFB42, OCP1.
Associated Diseases
- periodontal disorder
- hearing loss, autosomal dominant 75
- autosomal recessive cerebellar ataxia-blindness-deafness syndrome
- cochleosaccular degeneration-cataract syndrome
- hearing loss, autosomal dominant 77
- hearing loss, autosomal dominant 80
- autosomal recessive nonsyndromic hearing loss 4
- X-linked hereditary sensory and autonomic neuropathy with hearing loss
- Pendred syndrome
