tectonic family member 1
Annotations refreshed 1 month ago.
Diagnostic Grade (Green)
DDG2P
BIALLELIC, autosomal or pseudoautosomalFetal anomalies
BIALLELIC, autosomal or pseudoautosomalNeurological ciliopathies
BIALLELIC, autosomal or pseudoautosomalOphthalmological ciliopathies
BIALLELIC, autosomal or pseudoautosomalRare multisystem ciliopathy disorders
BIALLELIC, autosomal or pseudoautosomalRenal ciliopathies
BIALLELIC, autosomal or pseudoautosomalChildhood onset dystonia, chorea or related movement disorder
BIALLELIC, autosomal or pseudoautosomalCystic kidney disease
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Joubert syndrome
Meckel syndrome
Joubert syndrome and related disorders
developmental disability
Global developmental delay
stricture or kinking of ureter
hereditary disease
retinitis pigmentosa
Progressive cone dystrophy
Cone rod dystrophy
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Tectonic-1
Component of the tectonic-like complex, a complex localized at the transition zone of primary cilia and acting as a barrier that prevents diffusion of transmembrane proteins between the cilia and plasma membranes. Regulator of Hedgehog (Hh), required for both activation and inhibition of the Hh pathway in the patterning of the neural tube. During neural tube development, it is required for formation of the most ventral cell types and for full Hh pathway activation. Functions in Hh signal transduction to fully activate the pathway in the presence of high Hh levels and to repress the pathway in the absence of Hh signals. Modulates Hh signal transduction downstream of SMO and RAB23 (By similarity)
TCTN1 · Q2MV58
Mean pLDDT
77.6/ 100
Confident
587 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0
