This gene, originally isolated from testis, is also expressed in retina. Mutations in this gene are associated with Leber congenital amaurosis and juvenile retinitis pigmentosa. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2010]
Function:
The function of the SPATA7 protein remains unknown. It may be involved in retinal function.
SWISS:
Q9P0W8
Gene ID:
55812
Database links:
Entrez Gene: 55812 Human
Entrez Gene: 104871 Mouse
Entrez Gene: 192225 Rat
Omim: 609868 Human
SwissProt: Q9P0W8 Human
SwissProt: Q80VP2 Mouse
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