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MDRCMTT

Chr 2

LIM zinc finger domain containing 2

Also known as: LGMD2W, MDRCMTT, PINCH-2, PINCH2

NCBI Gene: 55679

The encoded protein is a focal adhesion protein with five LIM domains that interacts with integrin-linked kinase to regulate cell shape and migration through protein-protein interactions with the extracellular matrix. Mutations cause autosomal recessive muscular dystrophy with cardiomyopathy and triangular tongue, affecting both skeletal and cardiac muscle systems. The inheritance pattern is autosomal recessive.

ResearchSummary from RefSeq, OMIM

This gene encodes a member of a small family of focal adhesion proteins which interacts with ILK (integrin-linked kinase), a protein which effects protein-protein interactions with the extraceullar matrix. The encoded protein has five LIM domains, each domain forming two zinc fingers, which permit interactions which regulate cell shape and migration. A pseudogene of this gene is located on chromosome 4. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

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LOEUF

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Mechanism

Some data sources returned errors (3)