ALMS1 Gene
ALMS1, centrosome and basal body associated protein
Gene Information Card
| Symbol | ALMS1 |
|---|---|
| Full Name | ALMS1, centrosome and basal body associated protein |
| Gene Type | Protein coding |
| Chromosomal Location | 2p13.1 |
| NCBI Gene ID | 7840 ncbi.nlm.nih.gov/gene/7840 |
| Ensembl ID | ENSG00000116127 |
| UniProt ID | Q8TCU4 |
| OMIM ID | 606844 |
| HGNC ID | 428 |
| Aliases | ALSS, ALMS1 variant 1 |
Description
The ALMS1 gene encodes a protein localized to centrosomes and basal bodies, essential for ciliary function and cell cycle regulation. Mutations in ALMS1 cause Alström syndrome, a rare autosomal recessive disorder characterized by multisystem involvement including obesity, type 2 diabetes, cardiomyopathy, and sensorineural hearing loss.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Alström syndrome | Loss-of-function mutations disrupt ciliary function, leading to progressive multisystem degeneration | ClinVar, OMIM |
| Obesity | ALMS1 deficiency impairs leptin signaling and energy homeostasis | NCBI Gene, OMIM |
| Dilated cardiomyopathy | Ciliary dysfunction in cardiac cells leads to progressive heart failure | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Kidney | 8.2 | Medium |
| Heart | 6.1 | Low |
| Liver | 4.3 | Low |
| Brain | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 10.1 | Embryonic kidney cells |
| HeLa | 7.5 | Cervical cancer cells |
| HepG2 | 5.9 | Hepatocellular carcinoma cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.10775delC | Frameshift | Rare | Loss of function |
| c.11449C>T | Nonsense | Rare | Premature stop codon |
| c.12355_12356delAG | Frameshift | Rare | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Most ALMS1 mutations are loss-of-function, leading to truncated or absent protein, causing Alström syndrome.
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)
| • Centrosome | • Cilium assembly |
| • Cell cycle | • Protein binding |
| • Cytoskeleton |
Pathways
• Ciliopathy
• Centrosome cycle
• Leptin signaling
Protein Summary
ALMS1 is a large protein (4612 amino acids) localized to centrosomes and basal bodies. It is involved in ciliogenesis, cell cycle progression, and intracellular transport. The protein contains multiple coiled-coil domains and a C-terminal region critical for centrosomal targeting.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ALMS1 Knockout HEK293 Cell Line | EDJ-KQ6130 | Human | 7840 | Details Get a Quote |
| ALMS1 Knockout A-549 Cell Line | EDJ-KQ29901 | Human | 7840 | Details Get a Quote |
| ALMS1 Knockout HCT 116 Cell Line | EDJ-KQ29902 | Human | 7840 | Details Get a Quote |
| ALMS1 Knockout HeLa Cell Line | EDJ-KQ29903 | Human | 7840 | Details Get a Quote |
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