SASS6: Centrosomal Protein Essential for Centriole Biogenesis
Genetic insights into SASS6-related primary microcephaly and ciliary disorders
Gene Information Card
| Symbol | SASS6 |
|---|---|
| Full Name | SAS-6 centriolar assembly protein |
| Gene Type | protein-coding |
| Chromosomal Location | 1p21.2 |
| NCBI Gene ID | 163786 ncbi.nlm.nih.gov/gene/163786 |
| Ensembl ID | ENSG00000198719 |
| UniProt ID | Q6UVJ0 |
| OMIM ID | 609321 |
| HGNC ID | 25403 |
| Aliases | SAS6, MCPH14, SAS-6 |
Description
SASS6 encodes a centrosomal protein essential for centriole biogenesis. It is a core component of the cartwheel structure that initiates procentriole assembly. Mutations in SASS6 cause autosomal recessive primary microcephaly type 14 (MCPH14), characterized by reduced brain size and intellectual disability. The protein localizes to the centrosome and interacts with other centriolar proteins to regulate cell division.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Primary microcephaly 14 (MCPH14) | Loss-of-function mutations impair centriole duplication, reducing neural progenitor cell proliferation | OMIM #616402; ClinVar pathogenic variants |
| Seckel syndrome (possible) | Defective centriole assembly leads to impaired cell cycle progression and reduced body size | Limited evidence; case reports |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain (cerebellum) | 8.2 | Low |
| Bone marrow | 6.1 | Low |
| Lymph node | 5.4 | Low |
| Spleen | 4.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.3 | Embryonic kidney; high expression |
| HeLa | 12.1 | Cervical carcinoma; moderate |
| K562 | 8.7 | Leukemia; low |
| HepG2 | 7.2 | Hepatocellular carcinoma; low |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1150C>T (p.Arg384Trp) | Missense | Rare | Loss of function; disrupts centriole assembly |
| c.1573C>T (p.Arg525*) | Nonsense | Rare | Premature stop; loss of function |
| c.1972G>A (p.Gly658Arg) | Missense | Rare | Impaired protein stability |
Mutation functional classification
Loss of Function (LOF)
Most reported SASS6 mutations are loss-of-function, leading to reduced centriole number and microcephaly.
Gain of Function (GOF)
Not described for SASS6.
Dominant Negative (DN)
Not described; disease is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • centriole replication | • centrosome cycle |
| • centriole assembly | • protein homodimerization activity |
| • centrosome |
Pathways
• Centrosome maturation and duplication
• Cell cycle
• mitotic
Protein Summary
SASS6 is a 657-amino-acid protein containing a central coiled-coil domain and a conserved N-terminal domain. It forms homodimers and is a key structural component of the centriolar cartwheel. The protein is essential for the initiation of centriole duplication during the cell cycle. Defects in SASS6 lead to impaired centriole biogenesis, resulting in reduced cell proliferation and microcephaly.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SASS6 Knockout HEK293 Cell Line | EDJ-KQ52112 | Human | 163786 | Details Get a Quote |
| SASS6 Knockout HeLa Cell Line | EDJ-KQ58865 | Human | 163786 | Details Get a Quote |
| SASS6 Knockout A-549 Cell Line | EDJ-KQ67357 | Human | 163786 | Details Get a Quote |
| SASS6 Knockout HCT 116 Cell Line | EDJ-KQ75749 | Human | 163786 | Details Get a Quote |
