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Gene Review:

NLRP14 - NLR family, pyrin domain containing 14

Homo sapiens

Synonyms: CLR11.2, GC-LRR, NACHT, LRR and PYD domains-containing protein 14, NALP14, NOD5, ...

Westerveld, G.H. et al.

Westerveld, Korver, van Pelt, Leschot, van der Veen, Repping, Lombardi,

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Disease relevance of NLRP14

Finally, we performed a mutation screen of the NALP14 gene in 157 men with azoospermia or severe oligozoospermia by direct sequencing; 158 normospermic men served as controls [1].

High impact information on NLRP14

Within the testis, the NALP14 protein was mainly expressed in A dark spermatogonia, mid and late spermatocytes and spermatids [1].
CONCLUSION: Our data suggest that NALP14 has a function in spermatogenesis and that mutations in this gene might cause spermatogenic failure [1].
To determine imprinting status of NALP14, we tested the expression pattern of two single-nucleotide polymorphisms (SNPs) in human testis [1].

Anatomical context of NLRP14

RESULTS: NALP14 was, as are the three other genes in 11p15, exclusively expressed in testis [1].

Analytical, diagnostic and therapeutic context of NLRP14

METHODS: We applied two different multiple tissue northern (MTN) blots to determine tissue specificity of NALP14 and performed immunohistochemistry on human testis with anti-NALP14 antiserum [1].

References

Mutations in the testis-specific NALP14 gene in men suffering from spermatogenic failure. Westerveld, G.H., Korver, C.M., van Pelt, A.M., Leschot, N.J., van der Veen, F., Repping, S., Lombardi, M.P. Hum. Reprod. (2006) [Pubmed]

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