KRT26

Chr 17

keratin 26

Also known as: CK26, K25B, K25IRS2, K26, KRT25B

NCBI Gene: 353288UniProt: Q7Z3Y9

The protein encoded by this gene is a member of the keratin superfamily. This keratin protein is a type I keratin that is specific for the inner root sheath of the hair follicle. This gene exists in a cluster with other keratin genes on chromosome 17q21. [provided by RefSeq, Jul 2009]

91
ClinVar variants
7
Pathogenic / LP
0.00
pLI score
-0.7
Missense Z
1.40
LOEUF
0
Active trials
Clinical Summary— KRT26
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
7 Pathogenic / Likely Pathogenic· 76 VUS of 91 total submissions
Some data sources returned errors (1)

ensembl: TimeoutError: The operation was aborted due to timeout

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
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.
1.40LOEUF
pLI 0.000
Z-score 0.08
OE 0.98 (0.70–1.40)
Tolerant

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.
-0.66Z-score
OE missense 1.12 (1.01–1.24)
276 obs / 246.6 exp
Tolerant

Tolerant to missense variation

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.0.98 (0.70–1.40)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.1.12 (1.01–1.24)
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.0.94
0≤1.21.6
LoF obs/exp: 22 / 22.4Missense obs/exp: 276 / 246.6Syn Z: 0.43

ClinVar Variant Classifications

91 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic7
VUS76
Likely Benign8
7
Pathogenic
76
VUS
8
Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
7
0
7
Likely Pathogenic
0
0
0
0
0
VUS
0
76
0
0
76
Likely Benign
0
8
0
0
8
Benign
0
0
0
0
0
Total0847091

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

KRT26 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
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
Whole-genome resequencing reveals genetic diversity, differentiation, and selection signatures of yak breeds/populations in southwestern China
Zhang S et al.·Front Genet
2024
Screening of Protein Related to Wool Development and Fineness in Gansu Alpine Fine-Wool Sheep.
He Z et al.·Animals (Basel)
2025
Transcriptome sequencing reveals the key genes associated with hair follicle development in Qianhua Mutton Merino.
Qin Z et al.·Front Vet Sci
2025
Screening of cashmere fineness-related genes and their ceRNA network construction in cashmere goats
Hui T et al.·Sci Rep
2021
Integration Analysis of Hair Follicle Transcriptome and Proteome Reveals the Mechanisms Regulating Wool Fiber Diameter in Angora Rabbits
Huang D et al.·Int J Mol Sci
2024Functional
Long non-coding RNAs as potential biomarkers or therapeutic targets in gastric cancer
Askari N et al.·Gastroenterol Hepatol Bed Bench
2023
Update of the keratin gene family: evolution, tissue-specific expression patterns, and relevance to clinical disorders
Ho M et al.·Hum Genomics
2022
RTP4 is a novel prognosis-related hub gene in cutaneous melanoma
Li Y et al.·Hereditas
2021
Top 9 full-text resultsSearch PubTator3 ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients