GNB1L
Description
The GNB1L (G protein subunit beta 1 like) is a protein-coding gene located on chromosome 22.
GNB1L (Guanine nucleotide-binding protein subunit beta-like protein 1) is a protein encoded by the GNB1L gene in humans. It belongs to the WD repeat protein family, characterized by repeated sequences involved in protein-protein interactions. GNB1L contains six WD repeats and is primarily expressed in the heart. Its gene is located on chromosome 22q11, a region implicated in genetic disorders such as DiGeorge syndrome, derivative 22 syndrome, and cat-eye syndrome. GNB1L's potential involvement in these disorders suggests its importance in normal development. Interestingly, some GNB1L transcripts share exons with those of the C22orf29 gene.
GNB1L plays a crucial role in regulating the cellular response to DNA damage. It specifically controls the activity of PIKK (phosphatidylinositol 3-kinase-related protein kinase) family proteins, which are key components of the DNA damage response (DDR) signaling pathway.
GNB1L is also known as DGCRK3, FKSG1, GY2, WDR14, WDVCF.
Associated Diseases
- glaucoma
- X-linked retinal dysplasia
- familial idiopathic steroid-resistant nephrotic syndrome
- severe early-childhood-onset retinal dystrophy
- Crigler-Najjar syndrome type 2
- age related macular degeneration 4
- age related macular degeneration 7
- age related macular degeneration 11
- familial juvenile hyperuricemic nephropathy type 1
- non-suppurative otitis media
- congenital membranous nephropathy due to maternal anti-neutral endopeptidase alloimmunization
- Rotor syndrome
- C3 glomerulonephritis
