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10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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SASS6
SAS-6 centriolar assembly protein
Chromosome 1 Β· 1p21.2
NCBI Gene: 163786Ensembl: ENSG00000156876.10HGNC: HGNC:25403UniProt: B4DYM7
67PubMed Papers
21Diseases
0Drugs
7Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingcentriole replicationcentrosome duplicationpositive regulation of G1/S transition of mitotic cell cycleautosomal recessive primary microcephalygenetic disorderalcohol drinkingneurodegenerative disease
✦AI Summary

SASS6 (SAS-6 centriolar assembly protein) is a central scaffolding component essential for centriole assembly and centrosome biogenesis 1. It ensures the 9-fold symmetry of centrioles and is required for both mother-centriole-dependent duplication and deuterosome-dependent centriole amplification in multiciliated cells, with a specific role in recruiting STIL for centriole amplification 2. SASS6 maintains centriole architecture and regulates proper centrosome formation 3. Pathogenic biallelic SASS6 variants cause autosomal recessive primary microcephaly 14 (MCPH14), characterized by significantly reduced brain size 4. Recent evidence reveals an expanded phenotype including fetal growth restriction associated with SASS6 deficiency 4. Beyond its developmental role, SASS6 demonstrates oncogenic functions in multiple cancers. It is frequently upregulated in lung adenocarcinoma and esophageal squamous cell carcinoma, correlating with poor prognosis 53. SASS6 promotes tumor cell proliferation by inhibiting p53 signaling and activating the YAP/TAZ pathway 36. SASS6 overexpression facilitates centrosome amplification through the PLK4/SASS6 axis, driving polyploid giant cancer cell formation and therapeutic resistance 7. High SASS6 expression predicts immune-desert tumor subtypes with poor immunotherapy response 8.

Sources cited
1
SASS6 is a central scaffolding component ensuring 9-fold centriole symmetry and is required for centriole assembly
PMID: 30787112
2
SASS6 is required for both mother-centriole-dependent and deuterosome-dependent centriole amplification; undergoes positive selection in eutherian evolution
PMID: 33941077
3
Biallelic SASS6 variants cause primary microcephaly 14 and are associated with fetal growth restriction
PMID: 38501757
4
SASS6 is highly expressed in lung adenocarcinoma, associated with poor prognosis and cell cycle progression
PMID: 39443355
5
SASS6 promotes esophageal squamous cell carcinoma proliferation by inhibiting p53 signaling pathway
PMID: 32671379
6
SASS6 mediates centrosome amplification and polyploid giant cancer cell formation through the PLK4/SASS6 axis
PMID: 41319860
7
Unrestrained SASS6 expression increases ciliation and cell invasion through YAP/TAZ pathway activation
PMID: 40825584
8
SASS6 is a key gene predicting immune-desert hepatocellular carcinoma subtype with poor prognosis
PMID: 39289669
Disease Associationsβ“˜21
autosomal recessive primary microcephalyOpen Targets
0.68Moderate
genetic disorderOpen Targets
0.42Moderate
alcohol drinkingOpen Targets
0.24Weak
neurodegenerative diseaseOpen Targets
0.22Weak
lung adenocarcinomaOpen Targets
0.07Suggestive
neoplasmOpen Targets
0.05Suggestive
cancerOpen Targets
0.04Suggestive
hepatocellular carcinomaOpen Targets
0.03Suggestive
esophageal squamous cell carcinomaOpen Targets
0.02Suggestive
lung cancerOpen Targets
0.02Suggestive
microcephalyOpen Targets
0.02Suggestive
triple-negative breast cancerOpen Targets
0.02Suggestive
colorectal carcinomaOpen Targets
0.01Suggestive
colorectal cancerOpen Targets
0.01Suggestive
Primary microcephalyOpen Targets
0.01Suggestive
infectionOpen Targets
0.01Suggestive
adrenal cortex carcinomaOpen Targets
0.01Suggestive
gliomaOpen Targets
0.01Suggestive
fetal growth restrictionOpen Targets
0.01Suggestive
malariaOpen Targets
0.01Suggestive
Microcephaly 14, primary, autosomal recessiveUniProt
Pathogenic Variants7
NM_194292.3(SASS6):c.127-13A>GPathogenic
Microcephaly 14, primary, autosomal recessive
β˜…β˜…β˜†β˜†2025
NM_194292.3(SASS6):c.497C>A (p.Ser166Ter)Likely pathogenic
Microcephaly 14, primary, autosomal recessive
β˜…β˜†β˜†β˜†2023β†’ Residue 166
NM_194292.3(SASS6):c.170dup (p.Leu57fs)Likely pathogenic
Microcephaly 14, primary, autosomal recessive
β˜…β˜†β˜†β˜†2020β†’ Residue 57
NM_194292.3(SASS6):c.1186dup (p.Thr396fs)Pathogenic
Inborn genetic diseases
β˜…β˜†β˜†β˜†2019β†’ Residue 396
NM_194292.3(SASS6):c.170del (p.Leu57fs)Likely pathogenic
Microcephaly 14, primary, autosomal recessive
β˜…β˜†β˜†β˜†β†’ Residue 57
NM_194292.3(SASS6):c.1867+2T>APathogenic
Microcephaly 14, primary, autosomal recessive
β˜†β˜†β˜†β˜†2020
NM_194292.3(SASS6):c.185T>C (p.Ile62Thr)Pathogenic
Microcephaly 14, primary, autosomal recessive
β˜†β˜†β˜†β˜†2014β†’ Residue 62
View on ClinVar β†—
Related Genes
CROCCProtein interaction100%CEP164Protein interaction100%NINProtein interaction100%CEP295Protein interaction100%CNTROBProtein interaction100%POC5Protein interaction100%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
20%
Ovary
20%
Heart
18%
Liver
14%
Lung
12%
Gene Interaction Network
Click a node to explore
SASS6CROCCCEP164NINCEP295CNTROBPOC5
PROTEIN STRUCTURE
Preparing viewer…
PDB6Z4A Β· 1.46 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.20LoF Tolerant
pLIβ“˜
0.07Tolerant
Observed/Expected LoF0.57 [0.30–1.20]
RankingsWhere SASS6 stands among ~20K protein-coding genes
  • #7,015of 20,598
    Most Researched67
  • #3,204of 5,498
    Most Pathogenic Variants7
  • #12,625of 17,882
    Most Constrained (LOEUF)1.20
Genes detectedSASS6
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Molecular evolutionary analysis of human primary microcephaly genes.
PMID: 33941077
BMC Ecol Evol Β· 2021
1.00
2
SASS6 promotes tumor proliferation and is associated with TP53 and immune infiltration in lung adenocarcinoma.
PMID: 39443355
Clin Exp Med Β· 2024
0.90
3
Centriole assembly at a glance.
PMID: 30787112
J Cell Sci Β· 2019
0.80
4
SASS6 promotes proliferation of esophageal squamous carcinoma cells by inhibiting the p53 signaling pathway.
PMID: 32671379
Carcinogenesis Β· 2021
0.70
5
Novel biallelic SASS6 variants associated with primary microcephaly and fetal growth restriction.
PMID: 38501757
Am J Med Genet A Β· 2024
0.60