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SPATA7, originally isolated from testis, is also expressed in retina. Additionally we are shipping SPATA7 Proteins (5) and and many more products for this protein.
Showing 10 out of 41 products:
Cow (Bovine) Polyclonal SPATA7 Primary Antibody for WB - ABIN2787132
Mehrle, Rosenfelder, Schupp, del Val, Arlt, Hahne, Bechtel, Simpson, Hofmann, Hide, Glatting, Huber, Pepperkok, Poustka, Wiemann: The LIFEdb database in 2006. in Nucleic acids research 2005
Compound heterozygous c.1100A > G, p.(Y367C) and c.1102_1103delCT, p.(L368Efs*4) variants in SPATA7 manifest as an unusual RP phenotype in this case, showing extensive choroidal sclerosis and retinal pigment epithelium (RPE) atrophy with evidence of progression over two years on multimodal imaging.
We present the clinical and genetic findings of two siblings harboring the c.1112T>C/p.I371T homozygous mutation in the SPATA7 gene.
The disease resulting from SPATA7 mutations in this patient initially presented as a cone-rod dystrophy (CRD), but changed over time into a phenotype more reminiscent of late-stage retinitis pigmentosa (RP).
SPATA7 plays a role in RPGRIP1-mediated protein trafficking across the connecting cilium of photoreceptor cells. Apoptotic degeneration of these cells triggered by protein mislocalization is a mechanism of disease progression in LCA3/juvenile RP patients
A novel homozygous large deletion in SPATA7 associated with juvenile retinitis pigmentosa has been found in a consanguineous Israeli Muslim Arab family.
Digenic and triallelic mutations of CRB1 and SPATA7 were detected in a Chinese family with Leber congenital amaurosis. The results imply that CRB1 and SPATA7 may not interact with each other directly.
In conclusion, our data established the first linkage association of a loss-of-function mutation in the SPATA7 gene with a typical retinitis pigmentosa (RP) phenotype and not with leber congenital amaurosis or early onset RP.
Mutations in SPATA7 are a rare cause of childhood retinal dystrophy accounting for 1.7% of disease in this cohort.
analysis of the SPATA7 mutations in Leber congenital amaurosis and the associated phenotype
isolation and characterization of HSD-3.1 expressed in the testis
Spata7 is expressed in the mature mouse retina.
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.
spermatogenesis-associated protein 7
, spermatogenesis-associated protein HSD3
, spermatogenesis-associated protein 7 homolog
, fertility related protein WMP1
, fertility-related protein WMP1
, sperm DNA no.3