APCDD1
APC Down-Regulated 1 Gene
Gene Information Card
| Symbol | APCDD1 |
|---|---|
| Full Name | APC Down-Regulated 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 18p11.22 |
| NCBI Gene ID | 147495 ncbi.nlm.nih.gov/gene/147495 |
| Ensembl ID | ENSG00000134326 |
| UniProt ID | Q8N5I2 |
| OMIM ID | 607479 |
| HGNC ID | 24018 |
| Aliases | APCDD1, B7323, FP7019, PRO0846 |
Description
APCDD1 (APC Down-Regulated 1) is a protein-coding gene that encodes a membrane-bound inhibitor of the Wnt signaling pathway. It is involved in hair follicle development and cell proliferation. Mutations in APCDD1 are associated with hereditary hypotrichosis simplex (HHS). The gene is downregulated by the APC tumor suppressor and is expressed in various tissues including skin, hair follicles, and the central nervous system.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hereditary hypotrichosis simplex (HHS) | Loss-of-function mutations in APCDD1 disrupt Wnt signaling inhibition, leading to progressive hair loss. | OMIM #607479; ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skin | 12.5 | Medium |
| Hair follicle | 15.2 | Medium |
| Brain | 8.3 | Low |
| Lung | 6.1 | Low |
| Kidney | 4.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HaCaT (keratinocytes) | 18.9 | High expression |
| HEK293 | 9.2 | Moderate expression |
| SH-SY5Y (neuroblastoma) | 5.4 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.296C>T (p.Thr99Ile) | Missense | Rare | Loss of function; associated with HHS |
| c.403G>A (p.Gly135Arg) | Missense | Rare | Likely pathogenic; disrupts Wnt inhibition |
Mutation functional classification
Loss of Function (LOF)
Missense mutations (e.g., p.Thr99Ile) impair APCDD1's ability to inhibit Wnt signaling, leading to aberrant hair follicle cycling.
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)
| • Wnt signaling pathway (GO:0016055) | • negative regulation of canonical Wnt signaling pathway (GO:0090090) |
| • membrane (GO:0016020) | • integral component of membrane (GO:0016021) |
Pathways
• Wnt signaling pathway (KEGG: hsa04310)
• Wnt/β-catenin signaling (Reactome: R-HSA-201681)
Protein Summary
APCDD1 is a 514-amino acid transmembrane protein that functions as a negative regulator of the canonical Wnt signaling pathway. It is localized to the cell membrane and inhibits Wnt signaling by binding to Wnt ligands or interfering with receptor complex formation. The protein is highly expressed in hair follicles and skin, where it plays a critical role in hair growth and cycling. Mutations in APCDD1 lead to hereditary hypotrichosis simplex, a condition characterized by progressive hair loss.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| APCDD1 Knockout HEK293 Cell Line | EDJ-KQ10610 | Human | 147495 | Details Get a Quote |
| APCDD1L Knockout HEK293 Cell Line | EDJ-KQ12395 | Human | 164284 | Details Get a Quote |
| APCDD1 Knockout HeLa Cell Line | EDJ-KQ58575 | Human | 147495 | Details Get a Quote |
| APCDD1L Knockout HeLa Cell Line | EDJ-KQ58873 | Human | 164284 | Details Get a Quote |
| APCDD1 Knockout A-549 Cell Line | EDJ-KQ67065 | Human | 147495 | Details Get a Quote |
| APCDD1L Knockout A-549 Cell Line | EDJ-KQ67364 | Human | 164284 | Details Get a Quote |
| APCDD1 Knockout HCT 116 Cell Line | EDJ-KQ75466 | Human | 147495 | Details Get a Quote |
| APCDD1L Knockout HCT 116 Cell Line | EDJ-KQ75757 | Human | 164284 | Details Get a Quote |
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