SPINK14
Description
The SPINK14 (serine peptidase inhibitor Kazal type 14 (putative)) is a protein-coding gene located on chromosome 5.
SPINK14 is likely involved in regulating serine protease activity.
SPINK14 is also known as SPINK5L2.
Associated Diseases
- immunodeficiency 19
- monocytopenia with susceptibility to infections
- agammaglobulinemia 7, autosomal recessive
- ghosal hematodiaphyseal dysplasia
- combined immunodeficiency due to partial RAG1 deficiency
- immunodeficiency 18
- inborn error of immunity
- severe combined immunodeficiency due to IKK2 deficiency
- Cernunnos-XLF deficiency
- severe combined immunodeficiency due to LAT deficiency
- immunodeficiency 67
- immunodeficiency 105
- reticular dysgenesis
- neutropenia-monocytopenia-deafness syndrome
- autoimmune lymphoproliferative syndrome type 4
- combined immunodeficiency due to moesin deficiency
- immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias
- short-limb skeletal dysplasia with severe combined immunodeficiency
- severe combined immunodeficiency due to CD70 deficiency
- epidermodysplasia verruciformis
- bone marrow failure syndrome 6
