InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: FLG

Summary

InnateDB Protein

IDBP-102481.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

FLG

Protein Name

filaggrin

Synonyms

ATOD2;

Species

Homo sapiens

Ensembl Protein

ENSP00000357789

InnateDB Gene

IDBG-102479 (FLG)

Protein Structure

UniProt Annotation

Function

Aggregates keratin intermediate filaments and promotes disulfide-bond formation among the intermediate filaments during terminal differentiation of mammalian epidermis.

Subcellular Localization

Disease Associations

Ichthyosis vulgaris (VI) [MIM:146700]: 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. {ECO:0000269PubMed:16444271}. Note=The disease is caused by mutations affecting the gene represented in this entry.Dermatitis atopic 2 (ATOD2) [MIM:605803]: 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. {ECO:0000269PubMed:16550169, ECO:0000269PubMed:16815158, ECO:0000269PubMed:17030239, ECO:0000269PubMed:17291859}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.

Tissue Specificity

Keratohyalin granules. {ECO:0000269PubMed:1429717}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 28 experimentally validated interaction(s) in this database.