Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Moldiag Diseases Genes Support Contact

Caspase recruitment domain-containing protein 14

The CARD14 gene encodes a protein that is involved in regulation of signal transduction and apoptosis. Mutations cause autosomal dominant pityriasis rubra pilaris and psoriasis 2.

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Pityriasis rubra pilaris
CARD14
Psoriasis 02
CARD14

References:

1.

Krber A et. al. (2013) Mutations in IL36RN in patients with generalized pustular psoriasis.

external link
2.

Tomfohrde J et. al. (1994) Gene for familial psoriasis susceptibility mapped to the distal end of human chromosome 17q.

external link
3.

Bertin J et al. (2001) CARD11 and CARD14 are novel caspase recruitment domain (CARD)/membrane-associated guanylate kinase (MAGUK) family members that interact with BCL10 and activate NF-kappa B.

external link
4.

Gaide O et al. (2001) Carma1, a CARD-containing binding partner of Bcl10, induces Bcl10 phosphorylation and NF-kappaB activation.

external link
5.

Hwu WL et. al. (2005) Mapping of psoriasis to 17q terminus.

external link
6.

Yang CF et al. (2008) A promoter sequence variant of ZNF750 is linked with familial psoriasis.

external link
7.

Jordan CT et. al. (2012) PSORS2 is due to mutations in CARD14.

external link
8.

Jordan CT et al. (2012) Rare and common variants in CARD14, encoding an epidermal regulator of NF-kappaB, in psoriasis.

external link
9.

Fuchs-Telem D et. al. (2012) Familial pityriasis rubra pilaris is caused by mutations in CARD14.

external link
10.

Wang M et al. (2018) Gain-of-Function Mutation of Card14 Leads to Spontaneous Psoriasis-like Skin Inflammation through Enhanced Keratinocyte Response to IL-17A.

external link
11.
Update: Aug. 14, 2020
Copyright © 2005-2024 by Center for Nephrology and Metabolic Disorders, Dr. Mato Nagel, MD
Albert-Schweitzer-Ring 32, D-02943 Weißwasser, Germany, Tel.: +49-3576-287922, Fax: +49-3576-287944
Sitemap | Webmail | Disclaimer | Privacy Issues | Website Credits