Entity Details

Primary name KRT71
Entity type gene
Source Source Link

Details

PrimaryID112802
RefseqGeneNG_012426
SymbolKRT71
Namekeratin 71
Chromosome12
Location12q13.13
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2001-08-22
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsK2C71_HUMAN

GO terms

Show/Hide Table
GOName
GO:0005829 cytosol
GO:0031069 hair follicle morphogenesis
GO:0031424 keratinization
GO:0045095 keratin filament
GO:0045109 intermediate filament organization
GO:0070062 extracellular exosome
GO:0070268 cornification

Diseases

Show/Hide Table
Disease IDSourceNameDescription
615896 OMIMHypotrichosis 13 (HYPT13)A form of hypotrichosis, a condition characterized by the presence of less than the normal amount of hair and abnormal hair follicles and shafts, which are thin and atrophic. The extent of scalp and body hair involvement can be very variable, within as well as between families. HYPT13 is an autosomal dominant form characterized by sparse woolly hair. The disease is caused by variants affecting the gene represented in this entry.