AAMDC: Adipogenesis Associated Mth938 Domain Containing
A gene encoding a protein involved in adipogenesis and potential metabolic regulation.
Gene Information Card
| Symbol | AAMDC |
|---|---|
| Full Name | Adipogenesis Associated Mth938 Domain Containing |
| Gene Type | Protein coding |
| Chromosomal Location | 11q13.4 |
| NCBI Gene ID | 28971 ncbi.nlm.nih.gov/gene/28971 |
| Ensembl ID | ENSG00000137710 |
| UniProt ID | Q9H8L6 |
| OMIM ID | 614204 |
| HGNC ID | 30276 |
| Aliases | MGC13170, FLJ22662, C11orf67 |
Description
AAMDC (Adipogenesis Associated Mth938 Domain Containing) is a protein-coding gene located on chromosome 11q13.4. The encoded protein contains an Mth938-like domain and is implicated in the regulation of adipocyte differentiation and lipid metabolism. Expression studies suggest a role in adipose tissue development and energy homeostasis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Obesity | Potential involvement in adipogenesis and lipid storage | Expression studies in adipose tissue; limited direct evidence |
| Metabolic syndrome | May influence adipocyte function and insulin sensitivity | Correlative expression data |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Adipose tissue | 12.5 | Medium |
| Liver | 8.3 | Low |
| Skeletal muscle | 6.1 | Low |
| Kidney | 5.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| 3T3-L1 (adipocyte precursor) | 15.2 | Upregulated during differentiation |
| HepG2 (hepatocellular carcinoma) | 7.8 | Basal expression |
| HeLa (cervical carcinoma) | 4.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.337C>T (p.Arg113Trp) | Missense | Rare | Unknown functional impact |
| c.502G>A (p.Gly168Ser) | Missense | Rare | Unknown functional impact |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • GO:0003674 - molecular_function | • GO:0005575 - cellular_component |
| • GO:0008150 - biological_process |
Pathways
• Adipogenesis pathway (inferred)
• PPAR signaling pathway (inferred)
Protein Summary
The AAMDC protein contains an Mth938 domain of unknown function. It is predicted to be cytoplasmic and may participate in protein-protein interactions during adipocyte differentiation. Structural studies are limited.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| AAMDC Knockout HEK293 Cell Line | EDJ-KQ8948 | Human | 28971 | Details Get a Quote |
| AAMDC Knockout A-549 Cell Line | EDJ-KQ35313 | Human | 28971 | Details Get a Quote |
| AAMDC Knockout HCT 116 Cell Line | EDJ-KQ35314 | Human | 28971 | Details Get a Quote |
| AAMDC Knockout HeLa Cell Line | EDJ-KQ35315 | Human | 28971 | Details Get a Quote |
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