CMC4 Gene Summary [Human]

This gene was identified by involvement in some t(X;14) translocations associated with mature T-cell proliferations. This region has a complex gene structure, with a common promoter and 5' exon spliced to two different sets of 3' exons that encode two different proteins. This gene represents the downstream 8 kDa protein that localizes to mitochondria.[provided by RefSeq, Mar 2009]

Details

Type
Protein Coding
Official Symbol
CMC4
Official Name
C-X9-C motif containing 4 [Source:HGNC Symbol;Acc:HGNC:35428]
Ensembl ID
ENSG00000182712
Bio databases IDs NCBI: 100272147 Ensembl: ENSG00000182712
Aliases C-X9-C motif containing 4, mature T-cell proliferation 1, isoform p8
Synonyms C6.1B, C-X9-C motif containing 4, LOC679930, LOC684548, MTCP1, MTCP1B, MTCP1NB, p8, p8MTCP1
Species
Human, Homo sapiens
OrthologiesMouseRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human CMC4 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • Mature-T-Cell Proliferation I type

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • severe hemophilia A and moyamoya syndrome
  • X-linked Moyamoya disease

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Cytoplasm
  • Mitochondria

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human CMC4 gene, providing context for its role in the cell.

Cellular Component

Where in the cell the gene product is active
  • mitochondrial intermembrane space
  • mitochondrion

Gene-Specific Assays for Results You Can Trust

Streamline your workflow with assays designed for this gene. Our targeted dPCR and qPCR assays help you generate meaningful data – efficiently and accurately.