transmembrane protein 231
Annotations refreshed 1 month ago.
Diagnostic Grade (Green)
Fetal 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 pseudoautosomalRetinal disorders
BIALLELIC, autosomal or pseudoautosomalSkeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalIntellectual disability
BIALLELIC, autosomal or pseudoautosomal+10 more panels — install the extension to see the full list inline on any page.
Joubert syndrome 20
Meckel syndrome, type 11
Meckel syndrome
Joubert syndrome with ocular defect
Joubert syndrome
Joubert syndrome with oculorenal defect
Joubert syndrome and related disorders
ciliopathy
Joubert syndrome with orofaciodigital defect
orofaciodigital syndrome type 6
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Transmembrane protein 231
Transmembrane 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. Required for ciliogenesis and sonic hedgehog/SHH signaling (By similarity)
Curated MONDO disease pages that list TMEM231 among their top associated genes.
TMEM231 · Q9H6L2
Mean pLDDT
88.4/ 100
Confident
316 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0
