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FCMSU

Chr X

four and a half LIM domains 1

Also known as: FCMSU, FHL-1, FHL1A, FHL1B, FLH1A, KYOT, RBMX1A, RBMX1B

NCBI Gene: 2273

This gene encodes a four-and-a-half-LIM-only protein containing two tandemly arranged zinc finger domains that is involved in multiple cellular processes through cell- and tissue-specific expression. Mutations cause Uruguay faciocardiomusculoskeletal syndrome, which affects multiple organ systems including facial features, cardiac function, and the musculoskeletal system. The condition follows X-linked recessive inheritance.

ResearchSummary from RefSeq, OMIM

This gene encodes a member of the four-and-a-half-LIM-only protein family. Family members contain two highly conserved, tandemly arranged, zinc finger domains with four highly conserved cysteines binding a zinc atom in each zinc finger. Expression of these family members occurs in a cell- and tissue-specific mode and these proteins are involved in many cellular processes. Mutations in this gene have been found in patients with Emery-Dreifuss muscular dystrophy. Multiple alternately spliced transcript variants which encode different protein isoforms have been described.[provided by RefSeq, Nov 2009]

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)