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INF2

INF2

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

What is the official name of the INF2 gene?

The official name of this gene is “inverted formin, FH2 and WH2 domain containing.”

INF2 is the gene's official symbol. The INF2 gene is also known by other names, listed below.

Read more about gene names and symbols on the About page.

What is the normal function of the INF2 gene?

From NCBI GeneThis link leads to a site outside Genetics Home Reference.:

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 UniProtThis link leads to a site outside Genetics Home Reference.:

Severs actin filaments and accelerates their polymerization and depolymerization.

How are changes in the INF2 gene related to health conditions?

Genetics Home Reference provides information about Charcot-Marie-Tooth disease, which is associated with changes in the INF2 gene.
UniProtThis link leads to a site outside Genetics Home Reference. provides the following information about the INF2 gene's known or predicted involvement in human disease.

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. The disease is caused by mutations affecting the gene represented in this entry.

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. The disease is caused by mutations affecting the gene represented in this entry.

NCBI GeneThis link leads to a site outside Genetics Home Reference. lists the following diseases or traits (phenotypes) known or believed to be associated with changes in the INF2 gene.
  • Charcot-Marie-Tooth disease, dominant intermediate E
  • Focal segmental glomerulosclerosis 5
OMIM.orgThis link leads to a site outside Genetics Home Reference., a catalog designed for genetics professionals and researchers, provides the following information about the INF2 gene and its association with health conditions.
OMIM
Number
Title

Where is the INF2 gene located?

Cytogenetic Location: 14q32.33

Molecular Location on chromosome 14: base pairs 104,689,605 to 104,719,609

The INF2 gene is located on the long (q) arm of chromosome 14 at position 32.33.

The INF2 gene is located on the long (q) arm of chromosome 14 at position 32.33.

More precisely, the INF2 gene is located from base pair 104,689,605 to base pair 104,719,609 on chromosome 14.

See How do geneticists indicate the location of a gene? in the Handbook.

Where can I find additional information about INF2?

You and your healthcare professional may find the following resources about INF2 helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the INF2 gene or gene products?

  • C14orf151
  • C14orf173
  • CMTDIE
  • FSGS5
  • pp9484

Where can I find general information about genes?

The Handbook provides basic information about genetics in clear language.

These links provide additional genetics resources that may be useful.

What glossary definitions help with understanding INF2?

actin ; atrophy ; biopsy ; dialysis ; distal ; domain ; end-stage renal disease ; gene ; kidney ; locus ; median nerve ; motor ; nervous system ; peripheral ; peripheral nervous system ; progression ; protein ; proteinuria ; renal ; renal disease ; sclerosis ; stage

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

See also Understanding Medical Terminology.

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.

 
Published: February 23, 2015