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].
Albrecht, Wick, Hallgren, Tjärnlund, Nagaraju, Andrade, Thompson, Coley, Phadke, Diaz-Gallo, Bottai, Nennesmo, Chemin, Herrath, Johansson, Wikberg, Ytterberg, Zubarev, Danielsson, Krystufkova et al.: "Development of autoantibodies against muscle-specific FHL1 in severe inflammatory myopathies. ..." in: The Journal of clinical investigation, Vol. 125, Issue 12, pp. 4612-24, (2015) (PubMed).
Aliases for FHL1 蛋白
four and a half LIM domains 1 (fhl1) 蛋白 four and a half LIM domains 1 (FHL1) 蛋白 four and a half LIM domains 1a (fhl1a) 蛋白 Four and a half LIM domains protein 1 (fhl1) 蛋白 four and a half LIM domains 1 S homeolog (fhl1.S) 蛋白 four and a half LIM domains 1 (Fhl1) 蛋白 DKFZp468O1927 蛋白 fhl 蛋白 FHL-1 蛋白 fhl1 蛋白 FHL1 蛋白 Fhl1 蛋白 FHL1A 蛋白 FHL1B 蛋白 fhla 蛋白 FLH1A 蛋白 KYOT 蛋白 KyoT 蛋白 MGC89165 蛋白 SLIM 蛋白 SLIM-1 蛋白 SLIM1 蛋白 SLIMMER 蛋白 XMPMA 蛋白 zgc:92025 蛋白