HYLS1

Description

The HYLS1 gene provides instructions for making a protein called hydroxylase-like protein 1. This protein is crucial for the proper functioning of several vital metabolic pathways, particularly those involved in the synthesis of heme, a component of hemoglobin and other essential proteins. Heme is essential for oxygen transport in the blood and plays a role in cellular respiration and energy production. HYLS1, by participating in heme biosynthesis, indirectly influences these critical functions. Mutations in the HYLS1 gene can lead to disruptions in these pathways, potentially resulting in various health issues.

Associated Diseases

• X-linked sideroblastic anemia with ataxia (XLSA/A)
• Erythropoietic protoporphyria (EPP)
• Hepatic porphyria

Did you know?

Mutations in HYLS1 can cause a rare genetic disorder called X-linked sideroblastic anemia with ataxia (XLSA/A), characterized by iron overload in red blood cells and neurological problems.