Gene: [01q21/FLG] filaggrin (intermediate filament-associated protein); ichthyosis vulgaris (liability?);


MOP

[1] Before the keratinocyte terminal differentiation stage, the filaggrin remains in kerato-hyaline granules as a highly phosphorylated precursor, 324 amino acid residues in length. The precursor apparently comprises up to 12 repeats, which are linked by short (probably 7-13 amino asids) linkers excised proteolitically during the processing (McKinley-Grant-1989). It is only the resultant filaggrin peptides themselves that represent the functional subunits capable of the association with keratin interfilaments.
[2] Fillagrin is a component of a large system of cytoskeletal and associated proteins, specifically, of its IF-IFAPs (Intermediate Filament - IF-Associated Proteins) subsystem."

ASS

Data are available about a possible relationship of altered filaggrin synthesis with ichthyosis vulgaris."

REF

PAT,MEB "Baden &: J Invest Derm, 62, 411-414, 1974
PRO,SEQ,EVO,LOC "McKinley-Grant LJ &: PNAS, 86, N13, 4848-4852, 1989
PAT,MEB "Sybert &: J Invest Derm, 84, 191-194, 1985

KEY

cysk, derm

CLA

coding, basic

LOC

01 q21

MIM

MIM: 135940