CMC4 Human

The CMC4 gene is part of a bicistronic locus that also includes the MTCP1 gene. Both genes share a common promoter and a 5’ untranslated region (UTR), but they have distinct open reading frames (ORFs) and encode different proteins . The CMC4 gene consists of at least seven exons, with a complex gene structure that includes a long GC-rich sequence in the 5’ UTR .

The CMC4 protein, also known as p8 MTCP1, is a mitochondrial protein that plays a role in mature T-cell proliferation . It is involved in various cellular processes, including peroxisomal lipid metabolism . The protein is 68 amino acids long and is expressed in a cytoplasmic granular pattern in transfected cells .

Mutations or deletions in the CMC4 gene have been associated with several diseases, including Microcephalic Osteodysplastic Primordial Dwarfism, Type I, and Pitt-Hopkins Syndrome . Additionally, the gene has been implicated in certain T-cell lymphoproliferative diseases, where it is often involved in chromosomal translocations .

The study of CMC4 is crucial for understanding its role in T-cell proliferation and its potential implications in various diseases. Recombinant forms of the protein are used in research to study its function and interactions within the cell. Understanding the molecular mechanisms of CMC4 can provide insights into potential therapeutic targets for related diseases.