CYB5R4

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Description

The CYB5R4 (cytochrome b5 reductase 4) is a protein-coding gene located on chromosome 6.

Cytochrome b5 reductase 4 is an enzyme encoded by the CYB5R4 gene in humans. It's a flavohemoprotein containing functional domains found in both cytochrome b5 (CYB5) and CYB5 reductase (DIA1). This gene's location and details can be found in the UCSC Genome Browser.

CYB5R4, also known as NADH-cytochrome b5 reductase, plays a crucial role in the endoplasmic reticulum stress response pathway. It safeguards pancreatic beta-cells from oxidative stress by potentially preventing the accumulation of reactive oxygen species (ROS). This enzyme exhibits a wide range of substrate reduction capabilities in vitro, including cytochrome c, ferricyanide, and methemoglobin.

CYB5R4 is also known as NCB5OR, cb5/cb5R, dJ676J13.1.

Associated Diseases

• Parkinson disease
• multiple sclerosis
• lysosomal storage disease
• Alzheimer disease
• obesity due to melanocortin 4 receptor deficiency
• hyperinsulinism-hyperammonemia syndrome
• PLIN1-related familial partial lipodystrophy
• CIDEC-related familial partial lipodystrophy
• hyperinsulinism due to INSR deficiency
• hyperinsulinism due to glucokinase deficiency
• hereditary chronic pancreatitis
• obesity due to leptin receptor gene deficiency
• exercise-induced hyperinsulinism
• hyperinsulinemic hypoglycemia, familial, 2
• familial partial lipodystrophy, Kobberling type
• obesity due to pro-opiomelanocortin deficiency