This gene encodes a protein with similarity to the GS I members of the glutamine synthetase superfamily. The encoded protein is referred to as a pseudo-glutamine synthetase because it has no glutamine synthesis activity and may function as a chaperone protein. This protein is localized to the lens and may be associated with cataract disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2009]
Function:
May act as a component of the cytoskeleton or as a chaperone for the reorganization of intermediate filament proteins during terminal differentiation in the lens. Does not seem to have enzymatic activity.
Tissue Specificity:
Abundantly expressed in lens.
Similarity:
Belongs to the glutamine synthetase family.
SWISS:
Q5TDP6
Gene ID:
51557
Database links:
Entrez Gene: 51557 Human
Omim: 611470 Human
SwissProt: Q5TDP6 Human
Unigene: 149585 Human
|
|
