Spermatogenic failure 7; SPGF7

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

Targets

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

Ligands

No ligand related data available for Spermatogenic failure 7; SPGF7

References

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1. Avenarius MR, Hildebrand MS, Zhang Y, Meyer NC, Smith LL, Kahrizi K, Najmabadi H, Smith RJ. (2009) Human male infertility caused by mutations in the CATSPER1 channel protein. Am. J. Hum. Genet., 84 (4): 505-10. [PMID:19344877]