SHH signaling and ciliogenesis regulator SDCCAG8
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Diagnostic Grade (Green)
Bardet Biedl syndrome
BIALLELIC, autosomal or pseudoautosomalDDG2P
BIALLELIC, autosomal or pseudoautosomalFetal anomalies
BIALLELIC, autosomal or pseudoautosomalIntellectual disability
BIALLELIC, autosomal or pseudoautosomalOphthalmological ciliopathies
BIALLELIC, autosomal or pseudoautosomalRare multisystem ciliopathy disorders
BIALLELIC, autosomal or pseudoautosomalRenal ciliopathies
BIALLELIC, autosomal or pseudoautosomalRetinal disorders
BIALLELIC, autosomal or pseudoautosomal+12 more panels — install the extension to see the full list inline on any page.
Senior-Loken syndrome 7
Bardet-Biedl syndrome 16
Bardet-Biedl syndrome
Senior-Loken syndrome
thyroid gland carcinoma
thyroid cancer
hypothyroidism
hypertensive disorder
mathematical ability
schizophrenia
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Serologically defined colon cancer antigen 8
Plays a role in the establishment of cell polarity and epithelial lumen formation (By similarity). Also plays an essential role in ciliogenesis and subsequent Hedgehog signaling pathway that requires the presence of intact primary cilia for pathway activation. Mechanistically, interacts with and mediates RABEP2 centrosomal localization which is critical for ciliogenesis (PubMed:27224062)
Curated MONDO disease pages that list SDCCAG8 among their top associated genes.
SDCCAG8 · Q86SQ7
Mean pLDDT
77.9/ 100
Confident
713 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0
