keratin, type 2 cuticular Hb1; type II hair keratin Hb1; keratin, hair, basic, 1; ghHKb1; ghHb1; keratin-81; K81; K2.9; MLN 137 (KRT81, KRTHB1, MLN137)

Structure

• type 2 keratin
• heterotetramer of 2 type 1 & 2 type 2 keratins
• belongs to the intermediate filament family

Expression

• expressed in differentiating cortex of growing (anagen) hair
• expression restricted to keratinocytes of hair cortex; absent from inner root sheath & medulla

Pathology

• defects in KRTHB1 are a cause of monilethrix

More general terms

• basic hair keratin or type II hair keratin

Additional terms

• monilethrix

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=3887
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:3887
• OMIM: https://mirror.omim.org/entry/158000
• OMIM: https://mirror.omim.org/entry/602153
• UniProt: http://www.uniprot.org/uniprot/Q14533.html