FERMT1, Polyclonal Antibody

Anti -FERMT1 (C20orf42, Kindlerin, Kindlin Syndrome Protein, Kindlin-1, Unc-112-related Protein 1, Fermitin Family Homolog 1, KIND1, URP1, FLJ20116, FLJ23423)

For Research Use Only. Not for use in diagnostic procedures.

Chromosome: 20; NC_000020.10 (6055492..6104191, complement). Location: 20p12.3

Polyclonal

IgG

Rabbit

Recognizes human FERMT1.

Serum
Serum

Supplied as a liquid.

May be stored at 4 degree C for short-term only. Aliquot to avoid repeated freezing and thawing. Store at -20 degree C. Aliquots are stable for at least 12 months. For maximum recovery of product, centrifuge the original vial after thawing and prior to removing the cap.

Small volumes of anti-FERMT1 antibody vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.

Involved in cell adhesion. Contributes to integrin activation. When coexpressed with talin, potentiates activation of ITGA2B. Required for normal keratinocyte proliferation. Required for normal polarization of basal keratinocytes in skin, and for normal cell shape. Required for normal adhesion of keratinocytes to fibronectin and laminin, and for normal keratinocyte migration to wound sites. May mediate TGF-beta 1 signaling in tumor progression.

Antibodies; Abs to Disease Markers

Western Blot (WB), Immunoprecipitation (IP)

Suitable for use in Western Blot and Immunoprecipitation.

77,437 Da[Similar Products]

fermitin family member 1

fermitin family homolog 1; kindlerin; kindlin 1; UNC112 related protein 1; kindlin syndrome protein; unc-112-related protein 1

Fermitin family homolog 1

C20orf42; KIND1; URP1  [Similar Products]

FERM1_HUMAN

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. [provided by RefSeq, Dec 2009]

kindlin-1: Involved in cell adhesion. Contributes to integrin activation. When coexpressed with talin, potentiates activation of ITGA2B. Required for normal keratinocyte proliferation. Required for normal polarization of basal keratinocytes in skin, and for normal cell shape. Required for normal adhesion of keratinocytes to fibronectin and laminin, and for normal keratinocyte migration to wound sites. May mediate TGF-beta 1 signaling in tumor progression. Defects in FERMT1 are the cause of Kindler syndrome (KINDS). An autosomal recessive skin disorder characterized by skin blistering, photosensitivity, progressive poikiloderma, and extensive skin atrophy. Additional clinical features include gingival erosions, ocular, esophageal, gastrointestinal and urogenital involvement, and an increased risk of mucocutaneous malignancy. Although most FERMT1 mutations are predicted to lead to premature termination of translation, and to loss of FERMT1 function, significant clinical variability is observed among patients. There is an association of FERMT1 missense and in-frame deletion mutations with milder disease phenotypes, and later onset of complications (PubMed:21936020). Belongs to the kindlin family. 4 isoforms of the human protein are produced by alternative splicing.

Protein type: Motility/polarity/chemotaxis; Cytoskeletal

Chromosomal Location of Human Ortholog: 20p12.3

Cellular Component: filamentous actin; focal adhesion; cytosol; cell junction

Biological Process: keratinocyte proliferation; cell adhesion; keratinocyte migration

Disease: Kindler Syndrome

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