HomeAboutRankingsData Sources
Β© 2026 GeneE
🧬
GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
KRT71
keratin 71
Chromosome 12 Β· 12q13.13
NCBI Gene: 112802Ensembl: ENSG00000139648.7HGNC: HGNC:28927UniProt: Q3SY84
28PubMed Papers
21Diseases
0Drugs
1Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindinghair follicle morphogenesisintermediate filament organizationkeratin filamentWoolly hairisolated familial wooly hair disorderneurodegenerative diseaseandrogenetic alopecia
✦AI Summary

KRT71 (keratin 71) is a type II keratin that plays a central role in hair follicle structure and hair formation. The protein is specifically expressed in the inner root sheath (IRS) of hair follicles, where it forms intermediate filaments essential for proper hair shaft development 1. KRT71 functions as a structural component that maintains hair follicle integrity, with its protein showing uneven distribution in curved hair follicles and serving as a marker of inner root sheath differentiation 2. The gene is located within the type II keratin gene cluster on chromosome 12.13 and shows singular expression in skin and hair follicles 3. Mechanistically, KRT71 contains alpha-helical rod domains critical for keratin filament formation, and mutations in these domains disrupt normal hair structure 4. Disease-wise, KRT71 mutations cause hypotrichosis simplex and woolly hair disorders in humans, characterized by hair loss and curly hair phenotypes 5. Similar mutations in animal models produce curly or kinky hair with severely altered hair follicle morphology and dysplastic hair shafts 16. Clinical significance includes its role as a genetic marker for inherited hair disorders and potential applications in understanding acquired hair abnormalities and follicular dysplasia.

Sources cited
1
KRT71 is specifically expressed in the inner root sheath of hair follicles and mutations cause hypotrichosis with altered hair follicle morphology
PMID: 34356054
2
KRT71 protein serves as a marker of inner root sheath differentiation and shows uneven distribution in curved hair follicles
PMID: 38431439
3
KRT71 is located in the type II keratin gene cluster on chromosome 12q13.13 and shows singular expression in skin and hair follicles
PMID: 15737194
4
KRT71 contains alpha-helical rod domains and mutations in these domains disrupt normal hair structure
PMID: 20179389
5
KRT71 mutations cause hypotrichosis simplex and woolly hair disorders in humans
PMID: 37443815
6
KRT71 variants cause curly hair in multiple species and may be associated with follicular dysplasia
PMID: 30444027
Disease Associationsβ“˜21
Woolly hairOpen Targets
0.55Moderate
isolated familial wooly hair disorderOpen Targets
0.55Moderate
neurodegenerative diseaseOpen Targets
0.33Weak
androgenetic alopeciaOpen Targets
0.19Weak
hypotrichosisOpen Targets
0.19Weak
uncombable hair syndrome 3Open Targets
0.10Weak
ringed hair diseaseOpen Targets
0.10Weak
pili bifurcatiOpen Targets
0.10Weak
wooly hair, autosomal recessive 3Open Targets
0.09Suggestive
uncombable hair syndromeOpen Targets
0.09Suggestive
palmoplantar keratoderma, epidermolytic, 2Open Targets
0.08Suggestive
hypotrichosis 4Open Targets
0.08Suggestive
hereditary papulotranslucent acrokeratodermaOpen Targets
0.08Suggestive
hypotrichosis simplexOpen Targets
0.08Suggestive
uncombable hair syndrome 2Open Targets
0.08Suggestive
Alopecia universalisOpen Targets
0.08Suggestive
Trichodysplasia - xerodermaOpen Targets
0.08Suggestive
trichodysplasia-xeroderma syndromeOpen Targets
0.08Suggestive
Marie Unna hereditary hypotrichosisOpen Targets
0.08Suggestive
autosomal dominant wooly hairOpen Targets
0.08Suggestive
Hypotrichosis 13UniProt
Pathogenic Variants1
NM_033448.3(KRT71):c.422T>G (p.Phe141Cys)Pathogenic
Hypotrichosis 13
β˜†β˜†β˜†β˜†2012β†’ Residue 141
View on ClinVar β†—
Related Genes
RSPO2Protein interaction91%FGF5Protein interaction88%KRT25Protein interaction88%KRT27Protein interaction87%KRT74Protein interaction86%KRTAP11-1Protein interaction84%
Tissue Expression6 tissues
Lung
100%
Liver
0%
Heart
0%
Brain
0%
Ovary
0%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
KRT71RSPO2FGF5KRT25KRT27KRT74KRTAP11-1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q3SY84
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.12LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.86 [0.67–1.12]
RankingsWhere KRT71 stands among ~20K protein-coding genes
  • #12,377of 20,598
    Most Researched28
  • #5,278of 5,498
    Most Pathogenic Variants1
  • #11,474of 17,882
    Most Constrained (LOEUF)1.12
Genes detectedKRT71
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Development of Woolly Hair and Hairlessness in a CRISPR-Engineered Mutant Mouse Model with KRT71 Mutations.
PMID: 37443815
Cells Β· 2023
1.00
2
Characteristics and Expression Profile of KRT71 Screened by Suppression Subtractive Hybridization cDNA Library in Curly Fleece Chinese Tan Sheep.
PMID: 28509589
DNA Cell Biol Β· 2017
0.90
3
A second KRT71 allele in curly coated dogs.
PMID: 30444027
Anim Genet Β· 2019
0.80
4
Identification of the rat Rex mutation as a 7-bp deletion at splicing acceptor site of the Krt71 gene.
PMID: 20179389
J Vet Med Sci Β· 2010
0.70
5
Particulate matter 2.5 induces the skin barrier dysfunction and cutaneous inflammation via AhR- and T helper 17 cell-related genes in human skin tissue as identified via transcriptome analysis.
PMID: 36471583
Exp Dermatol Β· 2023
0.60