CYB561A3

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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