laminin subunit alpha 1
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Diagnostic Grade (Green)
Albinism or congenital nystagmus
BIALLELIC, autosomal or pseudoautosomalAtaxia and cerebellar anomalies - narrow panel
BIALLELIC, autosomal or pseudoautosomalDDG2P
BIALLELIC, autosomal or pseudoautosomalFetal anomalies
BIALLELIC, autosomal or pseudoautosomalIntellectual disability
BIALLELIC, autosomal or pseudoautosomalNeurological ciliopathies
BIALLELIC, autosomal or pseudoautosomalOphthalmological ciliopathies
BIALLELIC, autosomal or pseudoautosomalRare multisystem ciliopathy disorders
BIALLELIC, autosomal or pseudoautosomal+1 more panels — install the extension to see the full list inline on any page.
ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome
hereditary disease
type 2 diabetes mellitus
autosomal recessive non-syndromic intellectual disability
eye disorder
Retinal dystrophy
Abnormal retinal morphology
bacterial infectious disease
diabetes mellitus
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Laminin subunit alpha-1
Binding to cells via a high affinity receptor, laminin is thought to mediate the attachment, migration and organization of cells into tissues during embryonic development by interacting with other extracellular matrix components. As a ligand for alpha-dystroglycan, it is involved in a number of processes including epithelium branching morphogenesis, down-regulation of apoptotic signals in muscle via the activation of PI3K/AKT signaling, and activation of RAC1 signaling. As a subunit of laminin-1 (also known as laminin-111 or EHS laminin), it is involved in the stimulation of agrin-induced receptor clustering through a MuSK-independent pathway
LAMA1 · P25391
Mean pLDDT
Not published
AlphaFold has not published a prediction for this sequence. This is common for very long proteins.
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0
