KRT81
Involvement in disease
Monilethrix
MNLIX
A disorder clinically characterized by alopecia and follicular papules. Affected hairs have uniform elliptical nodes of normal thickness and intermittent constrictions, internodes at which the hair easily breaks. Usually only the scalp is involved, but in severe forms, the secondary sexual hair, eyebrows, eyelashes, and nails may also be affected.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the intermediate filament family.
Tissue Specificity
Abundantly expressed in the differentiating cortex of growing (anagen) hair. Expression is restricted to the keratinocytes of the hair cortex and is absent from inner root sheath and medulla. Expressed in malignant lymph node tissue in breast carcinoma tissue.
Alternative names
KRTHB1, MLN137, KRT81, Hair keratin K2.9, Keratin-81, Metastatic lymph node 137 gene protein, Type II hair keratin Hb1, Type-II keratin Kb21, ghHKb1, K81, MLN 137, ghHb1