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.
KRT74
keratin 74
Chromosome 12 Β· 12q13.13
NCBI Gene: 121391Ensembl: ENSG00000170484.10HGNC: HGNC:28929UniProt: Q7RTS7
29PubMed Papers
23Diseases
0Drugs
3Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingkeratin filament bindingcytoplasmextracellular exosomehypotrichosis 3autosomal dominant wooly hairWoolly hairectodermal dysplasia 7, hair/nail type
✦AI Summary

KRT74 encodes keratin 74, a type II intermediate filament protein that serves as a specific structural component of the inner root sheath (IRS) of hair follicles 1. The protein functions in hair formation through its role in organizing and stabilizing keratin intermediate filaments, with critical involvement in determining hair texture 1. KRT74 is also expressed in nail matrix, nail bed, and hyponychium tissues 2, contributing to broader ectodermal appendage development. Mutations in KRT74 disrupt keratin intermediate filament formation, predominantly through dominant-negative mechanisms 1. Pathogenic variants impair the stability of filament dimers, particularly when affecting conserved residues in the coil 1B domain required for long-range dimerization 2. Heterozygous KRT74 mutations cause autosomal dominant woolly hair (ADWH) and hypotrichosis, characterized by tightly curled, sparse hair 13. Homozygous mutations produce autosomal recessive pure hair and nail ectodermal dysplasia (PHNED), featuring brittle hair, hypotrichosis, and nail dystrophy 2. These findings establish KRT74 as a genetic determinant of both pathological hair disorders and normal hair texture variation 1.

Sources cited
1
KRT74 encodes IRS-specific keratin 74; heterozygous mutations cause ADWH through disruption of keratin intermediate filament formation; protein determines hair texture
PMID: 20346438
2
Novel KRT74 mutations (splice site and missense variants) identified in Pakistani families with ADWH and hypotrichosis
PMID: 21188418
3
Homozygous KRT74 variant causes autosomal recessive PHNED; KRT74 expressed in nail matrix, nail bed, and hair follicles; mutation affects coil 1B domain stability
PMID: 24714551
⚠Limited data available β€” This gene has 3 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜23
hypotrichosis 3Open Targets
0.68Moderate
autosomal dominant wooly hairOpen Targets
0.65Moderate
Woolly hairOpen Targets
0.53Moderate
ectodermal dysplasia 7, hair/nail typeOpen Targets
0.51Moderate
pure hair and nail ectodermal dysplasiaOpen Targets
0.45Moderate
hypotrichosis simplex of the scalpOpen Targets
0.37Weak
isolated familial wooly hair disorderOpen Targets
0.37Weak
hypotrichosisOpen Targets
0.02Suggestive
breast carcinomaOpen Targets
0.02Suggestive
non-small cell lung carcinomaOpen Targets
0.01Suggestive
alopecia areataOpen Targets
0.01Suggestive
ectodermal dysplasia syndromeOpen Targets
0.01Suggestive
adenocarcinomaOpen Targets
0.01Suggestive
alopeciaOpen Targets
0.01Suggestive
lung adenocarcinomaOpen Targets
0.01Suggestive
hepatocellular carcinomaOpen Targets
0.00Suggestive
alopecia totalisOpen Targets
0.00Suggestive
disorder of pilosebaceous unitOpen Targets
0.00Suggestive
amyloidosisOpen Targets
0.00Suggestive
psoriasisOpen Targets
0.00Suggestive
Ectodermal dysplasia 7, hair/nail typeUniProt
Hypotrichosis 3UniProt
Woolly hair autosomal dominantUniProt
Pathogenic Variants3
NM_175053.4(KRT74):c.1444G>A (p.Asp482Asn)Pathogenic
Hypotrichosis 3|not provided
β˜†β˜†β˜†β˜†2011β†’ Residue 482
NM_175053.4(KRT74):c.1391-1G>APathogenic
Autosomal dominant wooly hair|not provided
β˜†β˜†β˜†β˜†2011
NM_175053.4(KRT74):c.444C>G (p.Asn148Lys)Pathogenic
Autosomal dominant wooly hair|not provided
β˜†β˜†β˜†β˜†2010β†’ Residue 148
View on ClinVar β†—
Related Genes
KRT6CShared pathway100%KRT25Protein interaction88%KRT27Protein interaction87%LPAR6Protein interaction86%KRT71Protein interaction86%KRT3Shared pathway75%
Tissue Expression6 tissues
Brain
100%
Liver
0%
Heart
0%
Ovary
0%
Lung
0%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
KRT74KRT6CKRT25KRT27LPAR6KRT71KRT3
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q7RTS7
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.28LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.98 [0.76–1.28]
RankingsWhere KRT74 stands among ~20K protein-coding genes
  • #12,171of 20,598
    Most Researched29
  • #4,124of 5,498
    Most Pathogenic Variants3
  • #13,466of 17,882
    Most Constrained (LOEUF)1.28
Genes detectedKRT74
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Novel mutations in the keratin-74 (KRT74) gene underlie autosomal dominant woolly hair/hypotrichosis in Pakistani families.
PMID: 21188418
Hum Genet Β· 2011
1.00
2
Autosomal recessive transmission of a rare KRT74 variant causes hair and nail ectodermal dysplasia: allelism with dominant woolly hair/hypotrichosis.
PMID: 24714551
PLoS One Β· 2014
0.90
3
Autosomal-dominant woolly hair resulting from disruption of keratin 74 (KRT74), a potential determinant of human hair texture.
PMID: 20346438
Am J Hum Genet Β· 2010
0.80
4
A novel mutation in homeobox DNA binding domain of HOXC13 gene underlies pure hair and nail ectodermal dysplasia (ECTD9) in a Pakistani family.
PMID: 28403827
BMC Med Genet Β· 2017
0.70
5
[A case of KRT74 variation induced hair loss].
PMID: 34856669
Zhonghua Er Ke Za Zhi Β· 2021
0.60