Mitochondrial amidoxime reducing component 1

Ideogram human chromosome 1

Mitochondrial Amidoxime Reducing Component 1

Mitochondrial Amidoxime Reducing Component 1 (MARC1) is a protein-coding gene located on chromosome 2 in humans. MARC1 plays a crucial role in the mitochondria, specifically in the reduction of amidoximes to amino compounds. This enzymatic activity is essential for various metabolic processes within the cell.

Function

MARC1 is primarily involved in the reduction of amidoxime compounds to their corresponding amino derivatives. This enzymatic function is vital for the metabolism of certain substances in the mitochondria. MARC1 contributes to the overall efficiency of metabolic pathways by facilitating the conversion of amidoximes, which are intermediates in various metabolic reactions.

Structure

The MARC1 gene encodes a protein that is localized within the mitochondria. The protein structure of MARC1 consists of specific domains and motifs that are essential for its enzymatic activity. These structural features enable MARC1 to interact with substrates and catalyze the reduction of amidoxime compounds.

Clinical Significance

Mutations in the MARC1 gene can lead to disruptions in mitochondrial metabolism and function. These mutations may result in metabolic disorders or mitochondrial dysfunction, impacting various cellular processes. Understanding the role of MARC1 in health and disease is crucial for elucidating its clinical significance and potential implications for human health.