SPINK2 Chromosome 4
Serine peptidase inhibitor Kazal type 2
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What This Gene Does
This gene encodes a member of the family of serine protease inhibitors of the Kazal type (SPINK). The encoded protein acts as a trypsin and acrosin inhibitor in the genital tract and is localized in the spermatozoa. The protein has been associated with the progression of lymphomas. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012]
Gene Info
Gene Group
Serine peptidase inhibitors, Kazal type
Locus Type
gene with protein product
Location
4q12
Ensembl
ENSG00000128040
Associated Conditions (1)
Spermatogenic failure 29
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS577163578 | Health Risk | Pathogenic | Spermatogenic failure 29, Spermatogenic failure 29 |