Gene Symbol | FHL1 |
Entrez Gene ID | 2273 |
Full Name | four and a half LIM domains 1 |
Synonyms | FCMSU,FHL-1,FHL1A,FHL1B,FLH1A,KYOT,RBMX1A,RBMX1B,SLIM,SLIM-1,SLIM1,SLIMMER,XMPMA |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Scapuloperoneal myopathy, X-linked dominant, 300695 (3); Myopathy, X-linked, with postural muscle atrophy, 300696 (3); Reducing body myopathy, X-linked 1a, severe, infantile or early childhood onset, 300717 (3); Reducing body myopathy, X-linked 1b, with late childhood or adult onset, 300718 (3); Emery-Dreifuss muscular dystrophy 6, X-linked, 300696 (3); ?Uruguay faciocardiomusculoskeletal syndrome, 300280 (3) |