KRT32: Keratin 32
A type I hair keratin involved in hair shaft formation and structural integrity
Gene Information Card
| Symbol | KRT32 |
|---|---|
| Full Name | keratin 32 |
| Gene Type | protein-coding |
| Chromosomal Location | 17q21.2 |
| NCBI Gene ID | 3882 ncbi.nlm.nih.gov/gene/3882 |
| Ensembl ID | ENSG00000108465 |
| UniProt ID | Q14532 |
| OMIM ID | 602766 |
| HGNC ID | 6441 |
| Aliases | HA1, HKA1, KRTHA1, KRT32A, KRT32B |
Description
KRT32 encodes keratin 32, a type I hair keratin that heterodimerizes with type II keratins to form intermediate filaments in the hair shaft. This protein is essential for the structural integrity of hair and is expressed specifically in the hair cortex. Mutations in KRT32 are associated with autosomal dominant monilethrix, a hair disorder characterized by beaded hair shafts and fragility.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Monilethrix | Missense mutations in the helix initiation motif disrupt keratin filament assembly, leading to hair shaft fragility and beaded appearance. | OMIM #158000; PMID: 10980576 |
| Woolly hair (possible) | Altered keratin structure may contribute to abnormal hair curliness and fragility, though direct evidence is limited. | ClinVar; PMID: 23307924 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Hair follicle | — | High |
| Skin | — | Low |
| Esophagus | — | Not detected |
| Cervix | — | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HaCaT (keratinocyte) | — | Not expressed |
| NHEK (normal human epidermal keratinocytes) | — | Not expressed |
| HFDPC (hair follicle dermal papilla cells) | — | Not expressed |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.329G>A (p.Gly110Glu) | Missense | Rare | Disrupts helix initiation motif; associated with monilethrix |
| c.332T>C (p.Leu111Pro) | Missense | Rare | Alters coiled-coil domain; causes hair fragility |
| c.335A>G (p.Asn112Ser) | Missense | Rare | Reported in monilethrix families |
Mutation functional classification
Loss of Function (LOF)
Not established; missense mutations likely exert dominant-negative effects rather than complete loss.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Yes; mutant keratin 32 interferes with filament assembly, causing structural defects in hair.
View complete mutation data：
Gene Ontology (GO)
| • structural molecule activity (GO:0005198) | • intermediate filament (GO:0005882) |
| • keratin filament (GO:0045095) | • epithelial cell differentiation (GO:0030855) |
| • epidermis development (GO:0008544) |
Pathways
• Intermediate filament organization (Reactome: R-HSA-6809371)
• Keratinization (Reactome: R-HSA-6805567)
Protein Summary
Keratin 32 is a 50.6 kDa type I hair keratin composed of 456 amino acids. It contains a central alpha-helical rod domain with helix initiation and termination motifs critical for filament assembly. The protein is expressed exclusively in the hair cortex and forms heteropolymers with type II hair keratins such as KRT81. Post-translational modifications include phosphorylation and transglutamination during hair shaft maturation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KRT32 Knockout HEK293 Cell Line | EDJ-KQ5095 | Human | 3882 | Details Get a Quote |
| KRT32 Knockout HCT 116 Cell Line | EDJ-KQ28043 | Human | 3882 | Details Get a Quote |
| KRT32 Knockout HeLa Cell Line | EDJ-KQ53762 | Human | 3882 | Details Get a Quote |
| KRT32 Knockout A-549 Cell Line | EDJ-KQ62241 | Human | 3882 | Details Get a Quote |
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