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CARD14 caspase recruitment domain family member 14

Also known as: PRP; PSS1; BIMP2; CARMA2; PSORS2

Summary

This gene encodes a caspase recruitment domain-containing protein that is a member of the membrane-associated guanylate kinase (MAGUK) family of proteins. Members of this protein family are scaffold proteins that are involved in a diverse array of cellular processes including cellular adhesion, signal transduction and cell polarity control. This protein has been shown to specifically interact with BCL10, a protein known to function as a positive regulator of cell apoptosis and NF-kappaB activation. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Apr 2012]

Associated conditions

See all available tests in GTR for this gene

DescriptionTests
Pityriasis rubra pilaris
MedGen: C0032027OMIM: 173200GeneReviews: Not available
See labs
Psoriasis susceptibility 2
MedGen: C1864497OMIM: 602723GeneReviews: Not available
See labs

Copy number response

Description
Copy number response
Haploinsufficency

No evidence available (Last evaluated (2013-08-01)

ClinGen Genome Curation Page
Triplosensitivity

No evidence available (Last evaluated (2013-08-01)

ClinGen Genome Curation Page

Genomic context

Location:
17q25.3
Sequence:
Chromosome: 17; NC_000017.11 (80169992..80209331)
Total number of exons:
26

Links

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