Fhl1 Gene Search Result

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4 records found for search term Fhl1

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RGD ID	Symbol	Name	Description	Chr	Start	Stop	Species	Annotations	Match	Type
1342641	FHL1	four and a half LIM domains 1	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 ... (more) -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]	X	136146702	136211359	Human	461	symbol , COSMIC , Human Proteome Map , old_gene_symbol	gene, protein-coding, REVIEWED [RefSeq]
1353869	CFH	complement factor H	This gene is a member of the Regulator of Complement Activation (RCA) gene cluster and encodes a protein with twenty short consensus repeat (SCR) domains. This protein is secreted into the bloodstream and has an essential role in the regulation of complement activation, restricting this innate defen ... (more) se mechanism to microbial infections. Mutations in this gene have been associated with hemolytic-uremic syndrome (HUS) and chronic hypocomplementemic nephropathy. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Oct 2011]	1	196652043	196747504	Human	792	old_gene_symbol	gene, protein-coding, REVIEWED [RefSeq]
16557208	FHL1P1	FHL1 pseudogene 1	INTERACTS WITH malathion; perfluorooctanoic acid; permethrin	3	169943984	169966734	Human	3	symbol , COSMIC , name , Human Proteome Map	gene, pseudo, VALIDATED [RefSeq]
16557860	AC008040.3	four and a half LIM domains 1 (FHL1) pseudogene					Human		name	gene, transcribed_processed_pseudogene