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Rabbit Anti-C4orf14/FITC Conjugated antibody
background:
Representing approximately 6% of the human genome, chromosome 4 contains nearly 900 genes. Notably, the Huntingtin gene, which is found to encode an expanded glutamine tract in cases of Huntington's disease, is on chromosome 4. FGFR-3 is also encoded on chromosome 4 and has been associated with thanatophoric dwarfism, achondroplasia, Muenke syndrome and bladder cancer. Chromosome 4 is also tied to Ellis-van Creveld syndrome, methylmalonic acidemia and polycystic kidney disease. Chromosome 4 reportedly contains the largest gene deserts (regions of the genome with no protein encoding genes) and has one of the two lowest recombination frequencies of the human chromosomes. The C4orf14 gene product has been provisionally designated C4orf14 pending further characterization.
Function:
Involved in regulation of mitochondrial protein translation and respiration. Plays a role in mitochondria-mediated cell death. May act as a scaffolding protein or stabilizer of respiratory chain supercomplexes. Binds GTP.
Subunit:
Homodimer or multimer (By similarity). Interacts with mitochondrial complex I, DAP3, MRPL12 and MRPS27.
Subcellular Location:
Mitochondrion inner membrane; Peripheral membrane protein; Matrix side.
Similarity:
Belongs to the NOA1 family.
Database links:
Entrez Gene: 84273 Human
SwissProt: Q8NC60 Human
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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