NP_002007.1
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NCBI GenBank Nucleotide #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
435,170 Da
NCBI Official Full Name
filaggrin
NCBI Official Synonym Full Names
filaggrin
NCBI Official Synonym Symbols
NCBI Protein Information
filaggrin; epidermal filaggrin
UniProt Protein Name
Filaggrin
UniProt Entry Name
FILA_HUMAN
NCBI Summary for AFA
The protein encoded by this gene is an intermediate filament-associated protein that aggregates keratin intermediate filaments in mammalian epidermis. It is initially synthesized as a polyprotein precursor, profilaggrin (consisting of multiple filaggrin units of 324 aa each), which is localized in keratohyalin granules, and is subsequently proteolytically processed into individual functional filaggrin molecules. Mutations in this gene are associated with ichthyosis vulgaris.[provided by RefSeq, Dec 2009]
UniProt Comments for AFA
FLG: Aggregates keratin intermediate filaments and promotes disulfide-bond formation among the intermediate filaments during terminal differentiation of mammalian epidermis. Defects in FLG are the cause of ichthyosis vulgaris (VI); also known as ichthyosis simplex. Ichthyosis vulgaris is the most common form of ichthyosis inherited as an autosomal dominant trait. It is characterized by palmar hyperlinearity, keratosis pilaris and a fine scale that is most prominent over the lower abdomen, arms, and legs. Ichthyosis vulgaris is characterized histologically by absent or reduced keratohyalin granules in the epidermis and mild hyperkeratosis. The disease can be associated with frequent asthma, eczema or hay fever. Defects in FLG are a cause of susceptibility to dermatitis atopic type 2 (ATOD2). Atopic dermatitis is a complex, inflammatory disease with multiple alleles at several loci thought to be involved in the pathogenesis. It commonly begins in infancy or early childhood and is characterized by a chronic relapsing form of skin inflammation, a disturbance of epidermal barrier function that culminates in dry skin, and IgE- mediated sensitization to food and environmental allergens. It is manifested by lichenification, excoriation, and crusting, mainly on the flexural surfaces of the elbow and knee. Belongs to the S100-fused protein family.
Protein type: Cytoskeletal
Chromosomal Location of Human Ortholog: 1q21.3
Cellular Component: cytoplasmic membrane-bound vesicle; intermediate filament; nucleus
Molecular Function: protein binding; calcium ion binding; structural molecule activity
Biological Process: keratinocyte differentiation; multicellular organismal development
Disease: Ichthyosis Vulgaris; Dermatitis, Atopic, 2
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Products associated with AFA elisa kit
Pathways associated with AFA elisa kit
Diseases associated with AFA elisa kit
Disease Name |
Pubmed Publications |
Dermatitis, Atopic Antibodies |
>179 publications with AFA and Dermatitis, Atopic |
Dermatitis, Atopic, 1 Antibodies |
>101 publications with AFA and Dermatitis, Atopic, 1 |
Dermatitis, Atopic, 2 Antibodies |
>87 publications with AFA and Dermatitis, Atopic, 2 |
Eczema Antibodies |
>74 publications with AFA and Eczema |
Ichthyosis Antibodies |
>66 publications with AFA and Ichthyosis |
Ichthyosis Vulgaris Antibodies |
>62 publications with AFA and Ichthyosis Vulgaris |
Inflammation Antibodies |
>33 publications with AFA and Inflammation |
Lung Diseases Antibodies |
>30 publications with AFA and Lung Diseases |
Psoriasis Antibodies |
>14 publications with AFA and Psoriasis |
Necrosis Antibodies |
>12 publications with AFA and Necrosis |
Organs/Tissues associated with AFA elisa kit
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