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LCA3 / SPATA7

spermatogenesis associated 7

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.

Gene Name:	spermatogenesis associated 7
Synonyms:	SPATA7, HSD-3.1, Leber congenital amaurosis 3, HSD3, LCA3, Spermatogenesis associated 7
Target Sequences:	NM_018418 NP_060888.2 Q9P0W8

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The data on this page has been compiled from LifeSpan internal sources, the National Center for Biotechnology Information (NCBI), and The Universal Protein Resource (UniProt).

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