KDF1: Keratinocyte Differentiation Factor 1
A key regulator of epidermal development and keratinocyte differentiation
Gene Information Card
| Symbol | KDF1 |
|---|---|
| Full Name | keratinocyte differentiation factor 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 1p36.33 |
| NCBI Gene ID | 126695 ncbi.nlm.nih.gov/gene/126695 |
| Ensembl ID | ENSG00000162614 |
| UniProt ID | Q8N4W9 |
| OMIM ID | 615849 |
| HGNC ID | 26624 |
| Aliases | FLJ32670, MGC16384 |
Description
KDF1 (keratinocyte differentiation factor 1) is a protein-coding gene located on chromosome 1p36.33. It encodes a protein involved in the regulation of keratinocyte differentiation and epidermal development. Mutations in KDF1 have been associated with ectodermal dysplasia syndromes, including autosomal recessive hypotrichosis with or without nail dystrophy. The gene is expressed in skin, hair follicles, and other epithelial tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Ectodermal dysplasia 12, hypotrichosis with or without nail dystrophy | Loss-of-function mutations in KDF1 disrupt keratinocyte differentiation, leading to abnormal hair and nail development | OMIM #615849; ClinVar |
| Hypotrichosis | Impaired KDF1 function affects hair follicle morphogenesis and cycling | OMIM #615849 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skin | 12.5 | Medium |
| Esophagus | 8.2 | Low |
| Cervix | 6.1 | Low |
| Vagina | 5.4 | Low |
| Breast | 4.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HaCaT (keratinocyte) | 15.0 | High expression in keratinocyte cell line |
| A431 (epidermoid carcinoma) | 10.2 | Moderate expression |
| HEK293 (embryonic kidney) | 2.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | missense | Rare | Loss of start codon, likely loss of function |
| c.200C>T (p.Pro67Leu) | missense | Rare | Associated with ectodermal dysplasia |
| c.334G>A (p.Gly112Arg) | missense | Rare | Likely pathogenic in hypotrichosis |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations in KDF1 impair keratinocyte differentiation, leading to ectodermal dysplasia phenotypes.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • epidermis development (GO:0008544) | • keratinocyte differentiation (GO:0030216) |
| • nucleus (GO:0005634) | • cytoplasm (GO:0005737) |
Pathways
• Keratinocyte differentiation pathway
• Epidermal development pathway
Protein Summary
The KDF1 protein (UniProt Q8N4W9) is a 305-amino acid nuclear and cytoplasmic protein that regulates keratinocyte differentiation. It is essential for normal epidermal development and hair follicle morphogenesis. Loss of function leads to ectodermal dysplasia with hypotrichosis and nail dystrophy.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KDF1 Knockout HEK293 Cell Line | EDJ-KQ3251 | Human | 126695 | Details Get a Quote |
| KDF1 Knockout HCT 116 Cell Line | EDJ-KQ24788 | Human | 126695 | Details Get a Quote |
| KDF1 Knockout HeLa Cell Line | EDJ-KQ58185 | Human | 126695 | Details Get a Quote |
| KDF1 Knockout A-549 Cell Line | EDJ-KQ66675 | Human | 126695 | Details Get a Quote |
