Gene: FERMT1

Alternate names for this Gene: C20orf42|DTGCU2|KIND1|UNC112A|URP1

Gene Summary: This gene encodes a member of the fermitin family, and contains a FERM domain and a pleckstrin homology domain. The encoded protein is involved in integrin signaling and linkage of the actin cytoskeleton to the extracellular matrix. Mutations in this gene have been linked to Kindler syndrome.

Gene is located in Chromosome: 20

Location in Chromosome : 20p12.3

Description of this Gene: fermitin family member 1

Type of Gene: protein-coding

rs4256018 in FERMT1 gene and Crohn Disease PMID 28067908 2017 Genome-wide association study implicates immune activation of multiple integrin genes in inflammatory bowel disease.

rs4256018 in FERMT1 gene and Inflammatory Bowel Diseases PMID 28067908 2017 Genome-wide association study implicates immune activation of multiple integrin genes in inflammatory bowel disease.

rs121918293 in FERMT1 gene and Poikiloderma of Kindler PMID 14962093 2004 Recurrent mutations in kindlin-1, a novel keratinocyte focal contact protein, in the autosomal recessive skin fragility and photosensitivity disorder, Kindler syndrome.

PMID 12789646 2003 Loss of kindlin-1, a human homolog of the Caenorhabditis elegans actin-extracellular-matrix linker protein UNC-112, causes Kindler syndrome.

PMID 15313809 2004 Kindler syndrome in native Americans from Panama: report of 26 cases.

PMID 25599393 2015 The Kindler syndrome: a spectrum of FERMT1 mutations in Iranian families.

PMID 18528435 2008 Colocalization of kindlin-1, kindlin-2, and migfilin at keratinocyte focal adhesion and relevance to the pathophysiology of Kindler syndrome.

PMID 14507403 2003 Characteristic immunohistochemical and ultrastructural findings indicate that Kindler's syndrome is an apoptotic skin disorder.

PMID 21336475 2011 Novel and recurrent FERMT1 gene mutations in Kindler syndrome.

PMID 19762715 2009 Kindlin-1 Is required for RhoGTPase-mediated lamellipodia formation in keratinocytes.

PMID 21936020 2011 Kindler syndrome: extension of FERMT1 mutational spectrum and natural history.

PMID 12668616 2003 Identification of mutations in a new gene encoding a FERM family protein with a pleckstrin homology domain in Kindler syndrome.

PMID 25156791 2015 FERMT1 promoter mutations in patients with Kindler syndrome.

PMID 14962093 2004 In this study, we identified four new recurrent mutations in KIND1 in 16 individuals with Kindler syndrome from 13 families of Pakistani (676insC), UK Caucasian (E304X), Omani (W616X), or Italian (958-1G > A) origins.