MTCH1


Description

The MTCH1 (mitochondrial carrier 1) is a protein-coding gene located on chromosome 6.

MTCH1, or mitochondrial carrier homolog 1, also known as presenilin 1-associated protein (PSAP), is a protein encoded by the MTCH1 gene located on chromosome 6. It is a proapoptotic mitochondrial protein potentially involved in Alzheimer's disease (AD). MTCH1 shares structural similarities with the mitochondrial carrier protein family, containing 12 exons and generating four isoforms through alternative splicing. These isoforms, despite variations in sequence and length, share a similar structure with six transmembrane domains, including one for outer mitochondrial membrane (OMM) localization and two N-terminal apoptotic domains. MTCH1 localizes to the OMM and induces apoptosis independently of BAX and BAK, possibly by interacting with the mitochondrial permeability transition pore (MPTP) complex, leading to mitochondrial membrane depolarization, cytochrome C release, and caspase-3 activation. Its expression in various tissues suggests a potential housekeeping function. MTCH1's close interaction with presenilin might link it to AD and other neurodegenerative and neuroinflammatory diseases.

MTCH1 acts as a protein insertase, facilitating the insertion of transmembrane proteins into the mitochondrial outer membrane. It specifically catalyzes the insertion of proteins with alpha-helical transmembrane regions, including signal-anchored, tail-anchored, and multi-pass membrane proteins. However, it does not mediate the insertion of beta-barrel transmembrane proteins. MTCH1 may also play a role in apoptosis.

MTCH1 is also known as CGI-64, PIG60, PSAP, SLC25A49.

Associated Diseases



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