Entrez gene ID | | 2273 |
Official gene symbol | | FHL1 |
Full name | | four and a half LIM domains 1 |
Aliases | | ,FHL1A,FHL1B,FLH1A,KYOT,MGC111107,SLIM1,SLIMMER,XMPMA, |
Gene 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. |
Location | | Chromosome: X Locus: Xq26 |
Gene position | | 135228861 - 135293518 Map Viewer |
Gene orientation | | plus |
Gene size | | 64658 bp |
Gene sequence |
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OMIM ID | | 300163 |
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