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This section gives an overview of the disease, and where available shows the following:
More information can be found in the help pages.
✖Disease ID: | 872 | |
Name: | Spermatogenic failure 7; SPGF7 | |
Associated with: | 1 target |
Synonyms |
Non-syndromic male infertility due to sperm motility disorder |
Database Links |
OMIM:
612997 Orphanet: ORPHA276234 |
Click on the target name to link to its detailed view page
Where available, information is display on the role of the target in the disease; drugs which target the disease and their therapeutic use and side-effects.
If there is mutation data curated in GtoPdb this is indicated, with a link back to the appropriate section on the target detailed view page
Immuno ligand interactions - If available, a table of immuno-relevant ligands is shown. These ligands have been curated as having an association to the disease and possess interaction data with the target in GtoPdb. The approval status of the ligand is shown, along with curator comments and an indication of whether the target is considered the primary target of the ligand.
More information can be found in the help pages.
✖CatSper1 | |
Role: | The frameshift caused by this 5 bp insertion substitutes a methionine at Asp317 and introduces 18 novel residues before a premature stop codon (asp317metfsX18). In the absence of nonsense-mediated decay, the predicted product would be a truncated 335-residue protein. CatSper1 is one of four alpha subunits of the sperm-specific CatSper calcium channel known to be essential for normal male fertility in mice. The mutation suggests that CATSPER1 is also essential for normal male fertility in humans (see OMIM table 606389.0002). Insertion of a thymine at nucleotide 539 in exon 1 of the CATSPER1 gene introduces 8 novel amino acids followed by premature termination codon into the CatSper1 protein (lys180lysfsX8). If the aberrant transcript is not subject to nonsense-mediated decay, a severely truncated 188 aa protein would be translated. CatSper1 is one of four alpha subunits of the sperm-specific CatSper calcium channel known to be essential for normal male fertility in mice. The mutation suggests that CATSPER1 is also essential for normal male fertility in humans (see OMIM table 606389.0001) |
Comments: | The frameshift mutation was found in a male from a consanguineous Iranian family with nonsyndromic infertility characterised by sperm defects and reduced fertility. The thiamine insertion mutation was found in 2 brothers from a consanguneous Iranian family with nonsyndromic male infertilty characterised by sperm defects and reduced fertility. |
References: | 1 |
Mutations: | CatSper1 is associated with 2 mutation. Click here for details |
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More information can be found in the help pages.
✖No ligand related data available for Spermatogenic failure 7; SPGF7