SPINK6
Description
The SPINK6 (serine peptidase inhibitor Kazal type 6) is a protein-coding gene located on chromosome 5.
Serine protease inhibitor Kazal-type 6 (SPINK6) is a protein encoded by the SPINK6 gene in humans. It is a potent inhibitor of epidermal proteases involved in maintaining skin homeostasis, including KLK5, KLK7 and KLK14. SPINK6 is a member of a gene family cluster located on chromosome 5q33.1, which includes SPINK5 and SPINK9.
SPINK6 is a serine protease inhibitor selective for kallikreins. It efficiently inhibits KLK4, KLK5, KLK6, KLK7, KLK12, KLK13 and KLK14, but does not inhibit KLK8. This information is based on experimental evidence (ECO:0000269|PubMed:20667819, ECO:0000269|PubMed:21439340).
SPINK6 is also known as BUSI2, UNQ844.
Associated Diseases
- X-linked severe congenital neutropenia
- neutropenia, severe congenital, 2, autosomal dominant
- neutropenia-monocytopenia-deafness syndrome
- neutropenia, severe congenital, 1, autosomal dominant
- agammaglobulinemia 7, autosomal recessive
- monocytopenia with susceptibility to infections
- severe combined immunodeficiency due to IKK2 deficiency
- severe combined immunodeficiency due to CARD11 deficiency
- DDX41-related hematologic malignancy predisposition syndrome
- immunodeficiency 18
- autoimmune lymphoproliferative syndrome type 4
- immunodeficiency 105
- nonimmune chronic idiopathic neutropenia of adults
- immunodeficiency 67
