keratin, type II cuticular Hb3; type II hair keratin Hb3; keratin-83; K83; K2.10 (KRT83 KRTHB3)

Structure

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

Expression

• synthesis begins in the cortex 10-15 cell layers above the apex of the dermal papilla & ends abruptly in the middle of the cortex

Pathology

• defects in KRTHB3 are a cause of monilethrix

More general terms

• basic hair keratin or type II hair keratin

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=3889
• OMIM: https://mirror.omim.org/entry/158000
• OMIM: https://mirror.omim.org/entry/602765
• UniProt: http://www.uniprot.org/uniprot/P78385.html