background:
The cytochrome c oxidase (COX) family of proteins function as the final electron donor in the respiratory chain to drive a proton gradient across the inner mitochondrial membrane, ultimately resulting in the production of water. C1orf31 is a 125 amino acid mitochondrial protein that belongs to the cytochrome c oxidase subunit 6B family. There are three isoforms of C1orf31 that are produced as a result of alternative splicing events. The gene encoding C1orf31 maps to human chromosome 1, the largest human chromosome spanning about 260 million base pairs and making up 8% of the human genome. There are about 3,000 genes on chromosome 1, and considering the great number of genes there are also a large number of diseases associated with chromosome 1. Notably, the rare aging disease Hutchinson-Gilford progeria is associated with the LMNA gene which encodes lamin A. When defective, the LMNA gene product can build up in the nucleus and cause characteristic nuclear blebs. The mechanism of rapidly enhanced aging is unclear and is a topic of continuing exploration.
Subunit:
Interacts with COA1.
Subcellular Location:
Mitochondrion.
Similarity:
Belongs to the cytochrome c oxidase subunit 6B family.
Database links:
Entrez Gene: 388753 Human
Omim: 614772 Human
SwissProt: Q5JTJ3 Human
Unigene: 23198 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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