KRT25
Chr 17ARkeratin 25
Also known as: ARWH3, KRT24IRS1, KRT25A
This gene encodes a member of the type I (acidic) keratin family, which belongs to the superfamily of intermediate filament (IF) proteins. Keratins are heteropolymeric structural proteins which form the intermediate filament. These filaments, along with actin microfilaments and microtubules, compose the cytoskeleton of epithelial cells. The type I keratin genes are clustered in a region of chromosome 17q12-q21. [provided by RefSeq, Jul 2009]
Primary Disease Associations & Inheritance
Woolly hair, autosomal recessive 3MIM #616760
AR
UniProtWoolly hair autosomal recessive 3
Clinical Summary— KRT25
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Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Tolerant — LoF & missense variants common in population
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
1.10LOEUF
pLI 0.000
Z-score 1.21
OE 0.72 (0.49–1.10)
Highly tolerant — LoF variants common in population
Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
0.17Z-score
OE missense 0.97 (0.87–1.08)
248 obs / 255.5 exp
Mild missense constraint
Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.0.72 (0.49–1.10)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.97 (0.87–1.08)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.0.98
0≤1.21.6
LoF obs/exp: 16 / 22.2Missense obs/exp: 248 / 255.5Syn Z: 0.14
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
KRT25 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
Gene2Phenotype Curations
KRT25-related woolly hair
moderateGene2Phenotype curations · DECIPHER consortium patient cohort (public variants) · deciphergenomics.org
OMIM — Genotype-Phenotype Relationships
1 OMIM entry
KERATIN 25, TYPE I; KRT25
MIM #616646 · *
Autosomal recessive
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
A homozygous missense variant in type I keratin KRT25 causes autosomal recessive woolly hair.
Ansar M et al.·J Med Genet
2015Case report
Isolated autosomal recessive woolly hair/hypotrichosis: genetics, pathogenesis and therapies.
Akiyama M·J Eur Acad Dermatol Venereol
2021Review
A missense variant in the coil1A domain of the keratin 25 gene is associated with the dominant curly hair coat trait (Crd) in horse.
Morgenthaler C et al.·Genet Sel Evol
2017
Novel rare frameshift variation in aggressive periodontitis: Exomic and familial-screening analysis.
Taiete T et al.·J Periodontol
2020
Autosomal Recessive Hypotrichosis with Woolly Hair Caused by a Mutation in the Keratin 25 Gene Expressed in Hair Follicles.
Zernov NV et al.·J Invest Dermatol
2016
Novel small-insertion mutation in the LIPH gene in a patient with autosomal recessive woolly hair/hypotrichosis.
Lv H et al.·J Dermatol
2020Case report
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
An epistatic effect of KRT25 on SP6 is involved in curly coat in horses.
Thomer A et al.·Sci Rep
2018Open Access
Top 5 resultsSearch Europe PMC ↗
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
TMT-Based Quantitative Proteomic Analysis Reveals the Effect of Bone Marrow Derived Mesenchymal Stem Cell on Hair Follicle Regeneration
Zhang C et al.·Front Pharmacol
2021
A comparative proteomic-based study identifies essential factors involved in hair follicle growth in inner Mongolia cashmere goats
Nai R et al.·BMC Vet Res
2025
DNA dioxygenases Tet2/3 regulate gene promoter accessibility and chromatin topology in lineage-specific loci to control epithelial differentiation
Chen GD et al.·Sci Adv
2023
Study on the expression patterns of inner root sheath-specific genes in Tan sheep hair follicle during different developmental stages.
Shi A et al.·Gene
2024
Diagnosis and treatment of isolated autosomal recessive woolly hair/hypotrichosis.
Xie Y et al.·Front Med (Lausanne)
2025
RNA-Seq reveals the functional specificity of epididymal caput, corpus, and cauda genes of cattleyak.
Lang X et al.·Anim Sci J
2022Functional
Genetic and non-genetic factors influencing lambskin traits: A review.
Beshah KH et al.·Anim Genet
2025Review
Advances in Equine Genomics: Decoding the Genetic Architecture of Morphology, Performance, Behavior, and Adaptation.
Sharma M et al.·Mol Biotechnol
2025
The mRNA Expression Profile of Psoriatic Lesion Distinct from Non-Lesion
Li X et al.·Clin Cosmet Investig Dermatol
2022
[Proteomics-based screening of differentially expressed protein in bronchial asthma(syndrome of excessive cold)].
Yinlong et al.·Zhongguo Zhong Yao Za Zhi
2022
Top 10 full-text resultsSearch PubTator3 ↗
External Resources
Links to major genomics databases and tools