Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
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Spermatogenesis-associated protein 7

The SPATA7 gene encodes a protein expressed in testis and retina. Mutations cause autosomal recessive Leber congenital amaurosis type 3.

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Leber congenital amaurosis 03
SPATA7

References:

1.

Li Y et al. (2009) Mutation survey of known LCA genes and loci in the Saudi Arabian population.

external link
2.

Wang H et al. (2009) Mutations in SPATA7 cause Leber congenital amaurosis and juvenile retinitis pigmentosa.

external link
3.

Mackay DS et al. (2011) Screening of SPATA7 in patients with Leber congenital amaurosis and severe childhood-onset retinal dystrophy reveals disease-causing mutations.

external link
4.

Zhang X et al. (2003) A novel gene, RSD-3/HSD-3.1, encodes a meiotic-related protein expressed in rat and human testis.

external link
5.

Orphanet article

Orphanet ID 178826 external link
6.

NCBI article

NCBI 55812 external link
7.

OMIM.ORG article

Omim 609868 external link
8.

Wikipedia article

Wikipedia EN (SPATA7) external link
Update: Aug. 14, 2020
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