CYB561A3
Description
The CYB561A3 (cytochrome b561 family member A3) is a protein-coding gene located on chromosome 11.
CYB561A3 acts as a transmembrane reductase, utilizing ascorbate as an electron donor within the cytoplasm. It facilitates the transfer of electrons across membranes, reducing iron cations Fe(3+) to Fe(2+) within the lumen of late endosomes and lysosomes. The reduced iron is subsequently extruded from these compartments to the cytoplasm via divalent metal-specific transporters. This process suggests a key role for CYB561A3 in regulating iron homeostasis within endosomes and lysosomes.
CYB561A3 is also known as CYBASC3, LCYTB.
Associated Diseases
- Joubert syndrome
- retinitis pigmentosa
- isolated ectopia lentis
- aniridia
- snowflake vitreoretinal degeneration
- isolated aniridia
- X-linked retinoschisis
- cataract 50 with or without glaucoma
- Coats disease
- severe early-childhood-onset retinal dystrophy
- congenital primary aphakia
- birdshot chorioretinopathy
- familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome
- Stickler syndrome type 2
- Wagner disease
