KRT84

Chr 12

keratin 84

Also known as: HB4, KRTHB4

The protein encoded by this gene is a member of the keratin gene family. As a type II hair keratin, it is a basic protein which heterodimerizes with type I keratins to form hair and nails. The type II hair keratins are clustered in a region of chromosome 12q13 and are grouped into two distinct subfamilies based on structure similarity. One subfamily, consisting of KRTHB1, KRTHB3, and KRTHB6, is highly related. The other less-related subfamily includes KRTHB2, KRTHB4, and KRTHB5. All hair keratins are expressed in the hair follicle; this hair keratin is contained primarily in the filiform tongue papilla, among other hair keratins. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…
0
Active trials
2
Pubs (1 yr)
P/LP submissions
P/LP missense
1.15
LOEUF
Multiple*
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.15LOEUF
pLI 0.000
Z-score 1.03
OE 0.76 (0.521.15)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-1.22Z-score
OE missense 1.19 (1.091.29)
408 obs / 344.3 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.76 (0.521.15)
00.351.4
Missense OE?1.19 (1.091.29)
00.61.4
Synonymous OE?1.02
01.21.6
LoF obs/exp: 17 / 22.3Missense obs/exp: 408 / 344.3Syn Z: -0.17

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

KRT84 · protein map & ClinVar variants

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

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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