AMELY: Amelogenin Y-Linked Gene
A Y-chromosome-specific gene encoding an enamel matrix protein, used in sex determination and forensic genetics.
Gene Information Card
| Symbol | AMELY |
|---|---|
| Full Name | Amelogenin Y-Linked |
| Gene Type | Protein coding |
| Chromosomal Location | Yp11.2 |
| NCBI Gene ID | 266 ncbi.nlm.nih.gov/gene/266 |
| Ensembl ID | ENSG00000199796 |
| UniProt ID | Q99218 |
| OMIM ID | 410000 |
| HGNC ID | 462 |
| Aliases | AMGL, AMGY |
Description
AMELY encodes a member of the amelogenin family of extracellular matrix proteins that are critical for enamel formation during tooth development. The gene is located on the Y chromosome and is homologous to the X-linked AMELX gene. AMELY is widely used in forensic genetics for sex determination due to its presence only in males. Deletions of AMELY can lead to false-negative results in PCR-based sex typing assays.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Amelogenesis Imperfecta (hypoplastic type) | Defective enamel matrix protein disrupts normal enamel mineralization | Case reports of AMELY deletions associated with enamel defects; OMIM #301200 |
| Sex determination anomalies | Deletion of AMELY leads to discordant genetic sex assignment | Forensic studies; ClinVar records of AMELY deletions |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Salivary gland | 0.0 | Not detected |
| Testis | 0.0 | Not detected |
| Tooth bud (developing enamel) | High (qualitative) | Specific expression in ameloblasts |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| LS180 (colon adenocarcinoma) | 0.0 | No expression |
| HEK 293 (embryonic kidney) | 0.0 | No expression |
| Ameloblast-like cells (primary) | High (qualitative) | Model for enamel formation |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| Deletion of entire AMELY gene | Structural variant | Rare (0.1-0.5% in males) | Loss of Y-chromosomal amelogenin; used in forensic sex typing |
| c.1A>G (p.Met1?) | Missense | Unknown | Potential loss of start codon; functional impact not characterized |
Mutation functional classification
Loss of Function (LOF)
Deletion of AMELY results in absence of Y-linked amelogenin protein; compensated by AMELX in most individuals.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not applicable; hemizygous on Y chromosome.
View complete mutation data：
Gene Ontology (GO)
| • GO:0005576 extracellular region | • GO:0005615 extracellular space |
| • GO:0030345 structural constituent of tooth enamel | • GO:0034505 tooth mineralization |
| • GO:0070166 enamel mineralization |
Pathways
• Amelogenesis (enamel formation)
Protein Summary
Amelogenin Y (AMELY) is a 191-amino-acid secreted extracellular matrix protein that constitutes approximately 90% of the organic matrix in developing enamel. It is involved in the regulation of enamel crystal growth and organization. The protein is rich in proline, glutamine, and histidine, and undergoes proteolytic processing during enamel maturation. AMELY is functionally redundant with AMELX, but its Y-chromosome location makes it a key marker for sex identification.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| AMELY Knockout HEK293 Cell Line | EDJ-KQ50115 | Human | 266 | Details Get a Quote |
| AMELY Knockout HeLa Cell Line | EDJ-KQ52607 | Human | 266 | Details Get a Quote |
| AMELY Knockout A-549 Cell Line | EDJ-KQ61086 | Human | 266 | Details Get a Quote |
| AMELY Knockout HCT 116 Cell Line | EDJ-KQ69569 | Human | 266 | Details Get a Quote |
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