Function
May be a substrate-recognition component of a SCF-like ECS (Elongin-Cullin-SOCS-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins.
Gene References into Functions
- Variants in ASB10 were found to be significantly associated with sporadic POAG in the Pakistani population PMID: 26713451
- These findings suggested that the genes in the GLC1F locus may be associated with the pathogenesis of normal tension glaucoma. PMID: 20309402
- ASB10 may play a role in ubiquitin-mediated degradation pathways in tabecular meshwork cells. PMID: 23901248
- non-synonymous mutations in ASB10 do not cause Mendelian forms of primary open angle glaucoma PMID: 22798626
- Variants in ASB10 are associated with open-angle glaucoma. PMID: 22156576
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Involvement in disease
Glaucoma 1, open angle, F (GLC1F)
Subcellular Location
Cytoplasm. Nucleus. Note=In the ciliary body, it is detected in the cytoplasm and perinuclear region of the pigmented ciliary epithelial layer. In the retina, it is detected in the nuclei of retinal ganglion cells.
Protein Families
Ankyrin SOCS box (ASB) family
Tissue Specificity
Expressed in the eye. The highest expression is observed in the iris, with moderate levels in the trabecular meshwork (TM), the lamina, and the optic nerve; slightly lower levels in the ciliary body, retina, and choroid; and very low levels in the lens.
