MKS transition zone complex subunit 1
Annotations refreshed 1 month ago.
Diagnostic Grade (Green)
Bardet Biedl syndrome
BIALLELIC, autosomal or pseudoautosomalClefting
BIALLELIC, autosomal or pseudoautosomalDDG2P
BIALLELIC, autosomal or pseudoautosomalFetal anomalies
BIALLELIC, autosomal or pseudoautosomalIntellectual disability
BIALLELIC, autosomal or pseudoautosomalLimb disorders
BIALLELIC, autosomal or pseudoautosomalNeurological ciliopathies
BIALLELIC, autosomal or pseudoautosomalOphthalmological ciliopathies
BIALLELIC, autosomal or pseudoautosomal+17 more panels — install the extension to see the full list inline on any page.
Bardet-Biedl syndrome
Joubert syndrome
Meckel syndrome
Bardet-Biedl syndrome 13
Meckel syndrome, type 1
Joubert syndrome 28
polydactyly
polycystic kidney disease
occipital encephalocele
renal fibrosis
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Tectonic-like complex member MKS1
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. Involved in centrosome migration to the apical cell surface during early ciliogenesis. Required for ciliary structure and function, including a role in regulating length and appropriate number through modulating centrosome duplication. Required for cell branching morphology
Curated MONDO disease pages that list MKS1 among their top associated genes.
MKS1 · Q9NXB0
Mean pLDDT
73.6/ 100
Confident
559 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0
