SASS6

Chr 1p21.2

SAS-6 centriolar assembly protein

Aliases:: DKFZp761A078, SAS-6, FLJ22097, SAS6
MANE:: ENST00000287482.6

OMIM: 609321 ↗NCBI: 163786 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

SASS6 · Q6UVJ0

v62025-08-01

Predicted Aligned Error matrix for SASS6 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

73.3/ 100

Confident

657 residues

Confidence breakdown

Very high(≥ 90)45%
Confident(70–90)22%
Low(50–70)7%
Very low(< 50)27%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Severe microcephaly
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

autosomal recessive primary microcephaly
0.68
hereditary disease
0.42
alcohol drinking
0.23
neurodegenerative disease
0.22
neoplasm
0.06
cancer
0.05
hepatocellular carcinoma
0.04
lymphatic malformation 8
0.03
Alkuraya-Kucinskas syndrome
0.03
hydrops fetalis
0.03

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Spindle assembly abnormal protein 6 homolog

Central scaffolding component of the centrioles ensuring their 9-fold symmetry (By similarity). Required for centrosome biogenesis and duplication: required both for mother-centriole-dependent centriole duplication and deuterosome-dependent centriole amplification in multiciliated cells (PubMed:15665853, PubMed:16244668, PubMed:17681131). Not required for centriole formation in embryonic stem cells but necessary to maintain centriole architecture (By similarity). Required for the recruitment of STIL to the procentriole and for STIL-mediated centriole amplification (PubMed:22020124). Overexpression results in excess foci-bearing centriolar markers (PubMed:15665853)