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 |
