MARCKSL1

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Description

The MARCKSL1 (MARCKS like 1) is a protein-coding gene located on chromosome 1.

MARCKS-related protein is a protein that in humans is encoded by the MARCKSL1 gene. This gene encodes a member of the myristoylated alanine-rich C-kinase substrate (MARCKS) family. MARCKS plays a role in cytoskeletal regulation, protein kinase C signaling and calmodulin signaling. The encoded protein affects the formation of adherens junctions. Alternative splicing results in multiple transcript variants. MARCKSL1 has been shown to interact with DCTN2 and JNK.

MARCKSL1 plays a crucial role in regulating cell movement by influencing the organization of the actin cytoskeleton, specifically in the formation of filopodia and lamellipodia. In its unphosphorylated state, MARCKSL1 promotes cell migration. However, phosphorylation by MAPK8 leads to the formation and stabilization of actin bundles, reducing the flexibility of the actin cytoskeleton and consequently restricting cell movement, including neuronal migration. Additionally, MARCKSL1 might act as a link between the protein kinase C and calmodulin signaling pathways.

MARCKSL1 is also known as F52, MACMARCKS, MLP, MLP1, MRP.

Associated Diseases

• schizencephaly
• nonpapillary renal cell carcinoma
• mirror movements 1
• cobblestone lissencephaly without muscular or ocular involvement
• craniotelencephalic dysplasia
• Chudley-McCullough syndrome
• anencephaly 1
• X-linked hydrocephalus with stenosis of the aqueduct of Sylvius
• muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10
• muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8
• muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
• frontal encephalocele