Gene Symbol |
CNFN
|
Entrez Gene |
84518
|
Alt Symbol |
PLAC8L2
|
Species |
Human
|
Gene Type |
protein-coding
|
Description |
cornifelin
|
Other Description |
cornefied envelope protein cornefilin
|
Swissprots |
Q9BYD5 B2R569
|
Accessions |
EAW57134 Q9BYD5 AB049591 BAB40656 AK312080 BAG35016 BC101197 AAI01198 BC101198 AAI01199 XM_005259332 XP_005259389 XM_011527396 XP_011525698 XM_011527397 XP_011525699 NM_032488 NP_115877
|
Function |
Part of the insoluble cornified cell envelope (CE) of stratified squamous epithelia. {ECO:0000269|PubMed:15147942}.
|
Subcellular Location |
Cytoplasm. Note=Constituent of the scaffolding of the cornified envelope. {ECO:0000250}.
|
Tissue Specificity |
Abundant in the cervix. Moderately abundant in the uterus and fetal skin. Expression is markedly increased in psoriatic skin (18.5 fold increase in comparison with normal skin) and its overexpression alters the protein composition of cornified cell envelope (CE), but does not affect keratinocyte differentiation. Expressed in the granular cell layer of epidermis in uninvolved psoriatic skin and in the psoriatic lesions it is found in the upper-spinous layer. Increased expression also seen in atopic dermatitis (14.3 fold increase in comparison with normal skin) and mycosis fungoides (4.6 fold increase in comparison with normal skin) and in both conditions expressed in the granular cell layer of epidermis. {ECO:0000269|PubMed:15147942}.
|