SAMM50

Chr 22

SAMM50 sorting and assembly machinery component

Also known as: CGI-51, OMP85, SAM50, TOB55, TRG-3, YNL026W

NCBI Gene: 25813 ENSG00000100347 UniProt: Q9Y512 OMIM: 612058

The protein functions as a component of the mitochondrial outer membrane Sorting and Assembly Machinery (SAM) complex, playing a crucial role in maintaining mitochondrial cristae structure and assembling respiratory chain complexes. Mutations cause autosomal recessive severe infantile mitochondrial encephalomyopathy with onset in early infancy, characterized by profound neurological deterioration, cardiomyopathy, and often early lethality. The gene shows very low constraint against loss-of-function variants, consistent with the recessive inheritance pattern observed clinically.

OMIM ResearchSummary from RefSeq, UniProt

This gene encodes a component of the Sorting and Assembly Machinery (SAM) of the mitochondrial outer membrane. The Sam complex functions in the assembly of beta-barrel proteins into the outer mitochondrial membrane.[provided by RefSeq, Jun 2011]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.89

LOEUF

Mechanism· predicted