Gene Symbol | INF2 |
Entrez Gene ID | 64423 |
Full Name | inverted formin, FH2 and WH2 domain containing |
Synonyms | C14orf151,C14orf173,CMTDIE,FSGS5,pp9484 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene represents a member of the formin family of proteins. It is considered a diaphanous formin due to the presence of a diaphanous inhibitory domain located at the N-terminus of the encoded protein. Studies of a similar mouse protein indicate that the protein encoded by this locus may function in polymerization and depolymerization of actin filaments. Mutations at this locus have been associated with focal segmental glomerulosclerosis 5.[provided by RefSeq, Aug 2010]. |
Disorder MIM: | |
Disorder Html: | Glomerulosclerosis, focal segmental, 5, 613237 (3); Charcot-Marie-Tooth disease, dominant intermediate E, 614455 (3) |