SAMM50
Description
The SAMM50 (SAMM50 sorting and assembly machinery component) is a protein-coding gene located on chromosome 22.
SAMM50 is a protein encoded by the SAMM50 gene in humans. Two variants of SAMM50, P377A and V231I, have been associated with a range of symptoms including epilepsy, migraine, pancreatic insufficiency, global apraxia, developmental regression, and carnitine deficiency.
SAMM50 is essential for maintaining the structure of mitochondrial cristae and for the proper assembly of the mitochondrial respiratory chain complexes. It is also required for the assembly of TOMM40 into the TOM complex.
SAMM50 is also known as CGI-51, OMP85, SAM50, TOB55, TRG-3, YNL026W.
