INF2

inverted formin, FH2 and WH2 domain containing

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From UniProt:

Severs actin filaments and accelerates their polymerization and depolymerization.

Covered on Genetics Home Reference:

From NCBI Gene:

  • Focal segmental glomerulosclerosis 5
  • Charcot-Marie-Tooth disease, dominant intermediate E

From UniProt:

Charcot-Marie-Tooth disease, dominant, intermediate type, E (CMTDIE): A form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. The dominant intermediate type E is characterized by clinical and pathologic features intermediate between demyelinating and axonal peripheral neuropathies, and motor median nerve conduction velocities ranging from 25 to 45 m/sec. Patients additionally manifest focal segmental glomerulonephritis, proteinuria, progression to end-stage renal disease, and a characteristic histologic pattern on renal biopsy. [MIM:614455]

Focal segmental glomerulosclerosis 5 (FSGS5): A renal pathology defined by the presence of segmental sclerosis in glomeruli and resulting in proteinuria, reduced glomerular filtration rate and progressive decline in renal function. Renal insufficiency often progresses to end-stage renal disease, a highly morbid state requiring either dialysis therapy or kidney transplantation. [MIM:613237]

Cytogenetic Location: 14q32.33, which is the long (q) arm of chromosome 14 at position 32.33

Molecular Location: base pairs 104,689,606 to 104,719,610 on chromosome 14 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 14q32.33, which is the long (q) arm of chromosome 14 at position 32.33
  • C14orf151
  • C14orf173
  • CMTDIE
  • FSGS5
  • pp9484