GCOM1

Description

The GCOM1 (GCOM1, MYZAP-POLR2M combined locus) is a protein-coding gene located on chromosome 15.

GCOM1 is a gene that encodes the enzyme ferrochelatase, which plays a vital role in the synthesis of heme. Heme is an iron-containing molecule essential for oxygen transport and various metabolic processes. The GCOM1 gene is located on chromosome 18 and is expressed in various tissues, particularly in the liver and bone marrow. Mutations in GCOM1 can lead to erythropoietic protoporphyria (EPP), a genetic disorder characterized by the accumulation of protoporphyrin IX in red blood cells, leading to photosensitivity and other symptoms.

GCOM1 plays a critical role in the biosynthesis of heme, a crucial molecule involved in oxygen transport and various metabolic processes. It catalyzes the conversion of protoporphyrin IX to protoporphyrin IX-Fe(II) (heme), the final step in heme synthesis. This enzyme is essential for red blood cell development and overall cellular respiration.

GCOM1 is also known as GRINL1A, Gcom2, MYZAP, MYZAP-POLR2M, gcom.

Associated Diseases

WES Whole Exome Sequencing

Clinical Exome Sequencing