microtubule associated protein 1B
Annotations refreshed 1 month ago.
Diagnostic Grade (Green)
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedMalformations of cortical development
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedFetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedHereditary neuropathy
BIALLELIC, autosomal or pseudoautosomalperiventricular nodular heterotopia 9
hearing loss, autosomal dominant 83
neurodegenerative disease
periventricular nodular heterotopia
hereditary disease
autosomal dominant nonsyndromic hearing loss
chromosome 5Q14.3 deletion syndrome, distal
attention deficit-hyperactivity disorder
Global developmental delay
liver cancer
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Microtubule-associated protein 1B
Facilitates tyrosination of alpha-tubulin in neuronal microtubules (By similarity). Phosphorylated MAP1B is required for proper microtubule dynamics and plays a role in the cytoskeletal changes that accompany neuronal differentiation and neurite extension (PubMed:33268592). Possibly MAP1B binds to at least two tubulin subunits in the polymer, and this bridging of subunits might be involved in nucleating microtubule polymerization and in stabilizing microtubules. Acts as a positive cofactor in DAPK1-mediated autophagic vesicle formation and membrane blebbing
Curated MONDO disease pages that list MAP1B among their top associated genes.
MAP1B · P46821
Mean pLDDT
45.7/ 100
Very low
2,468 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0
