Gene: CSF1R

Alternate names for this Gene: BANDDOS|C-FMS|CD115|CSF-1R|CSFR|FIM2|FMS|HDLS|M-CSF-R

Gene Summary: The protein encoded by this gene is the receptor for colony stimulating factor 1, a cytokine which controls the production, differentiation, and function of macrophages. This receptor mediates most if not all of the biological effects of this cytokine. Ligand binding activates the receptor kinase through a process of oligomerization and transphosphorylation. The encoded protein is a tyrosine kinase transmembrane receptor and member of the CSF1/PDGF receptor family of tyrosine-protein kinases. Mutations in this gene have been associated with a predisposition to myeloid malignancy. The first intron of this gene contains a transcriptionally inactive ribosomal protein L7 processed pseudogene oriented in the opposite direction. Alternative splicing results in multiple transcript variants. Expression of a splice variant from an LTR promoter has been found in Hodgkin lymphoma (HL), HL cell lines and anaplastic large cell lymphoma.

Gene is located in Chromosome: 5

Location in Chromosome : 5q32

Description of this Gene: colony stimulating factor 1 receptor

Type of Gene: protein-coding

rs917027829 in CSF1R gene and Dysmorphic features PMID 23816250 2013 A novel A781V mutation in the CSF1R gene causes hereditary diffuse leucoencephalopathy with axonal spheroids.

PMID 23649896 2013 Genetic analysis of inherited leukodystrophies: genotype-phenotype correlations in the CSF1R gene.

PMID 24145216 2013 CSF1R mutations in hereditary diffuse leukoencephalopathy with spheroids are loss of function.

PMID 22098561 2012 Update of the original HDLS kindred: divergent clinical courses.

PMID 19487654 2009 Leukoencephalopathy with spheroids (HDLS) and pigmentary leukodystrophy (POLD): a single entity?

PMID 6595937 1984 Hereditary diffuse leucoencephalopathy with spheroids.

PMID 8981357 1997 Biology and action of colony--stimulating factor-1.

PMID 23411710 2013 Early involvement of the corpus callosum in a patient with hereditary diffuse leukoencephalopathy with spheroids carrying the de novo K793T mutation of CSF1R.

PMID 24336230 2014 Haploinsufficiency of CSF-1R and clinicopathologic characterization in patients with HDLS.

PMID 22197934 2011 Mutations in the colony stimulating factor 1 receptor (CSF1R) gene cause hereditary diffuse leukoencephalopathy with spheroids.

PMID 18794495 2008 Insights into the dynamics of hereditary diffuse leukoencephalopathy with axonal spheroids.

PMID 23408870 2013 CSF1R mutations link POLD and HDLS as a single disease entity.

PMID 22843259 2012 MRI characteristics and scoring in HDLS due to CSF1R gene mutations.

rs1057519802 in CSF1R gene and Hematologic Neoplasms PMID 18971950 2009 Imatinib sensitivity as a consequence of a CSF1R-Y571D mutation and CSF1/CSF1R signaling abnormalities in the cell line GDM1.

PMID 2406720 1990 FMS mutations in myelodysplastic, leukemic, and normal subjects.

rs387906662 in CSF1R gene and Hereditary Diffuse Leukoencephalopathy with Spheroids PMID 22197934 2011 Mutations in the colony stimulating factor 1 receptor (CSF1R) gene cause hereditary diffuse leukoencephalopathy with spheroids.

PMID 24532199 2014 Hereditary diffuse leukoencephalopathy with axonal spheroids: three patients with stroke-like presentation carrying new mutations in the CSF1R gene.

PMID 23649896 2013 Genetic analysis of inherited leukodystrophies: genotype-phenotype correlations in the CSF1R gene.

PMID 24336230 2014 Haploinsufficiency of CSF-1R and clinicopathologic characterization in patients with HDLS.

PMID 26633545 2016 Molecular diagnostic experience of whole-exome sequencing in adult patients.

PMID 23816250 2013 A novel A781V mutation in the CSF1R gene causes hereditary diffuse leucoencephalopathy with axonal spheroids.

PMID 24198292 2013 De novo mutations in hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS).

PMID 24034409 2013 A new CSF1R mutation presenting with an extensive white matter lesion mimicking primary progressive multiple sclerosis.

PMID 23411710 2013 Early involvement of the corpus callosum in a patient with hereditary diffuse leukoencephalopathy with spheroids carrying the de novo K793T mutation of CSF1R.

PMID 24094860 2013 Increasing and persistent DWI changes in a patient with hereditary diffuse leukoencephalopathy with spheroids.

PMID 2470618 1989 Involvement of tryptase-related cellular protease(s) in human immunodeficiency virus type 1 infection.

PMID 25012610 2014 A novel mutation in the CSF1R gene causes a variable leukoencephalopathy with spheroids.

PMID 25311247 2015 Hereditary diffuse leukoencephalopathy with spheroids with phenotype of primary progressive multiple sclerosis.

rs3216780 in CSF1R gene and Monocyte count procedure PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs3216780 in CSF1R gene and Monocyte count result PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs917027829 in CSF1R gene and Movement Disorders PMID 23816250 2013 A novel A781V mutation in the CSF1R gene causes hereditary diffuse leucoencephalopathy with axonal spheroids.

PMID 23649896 2013 Genetic analysis of inherited leukodystrophies: genotype-phenotype correlations in the CSF1R gene.

PMID 24336230 2014 Haploinsufficiency of CSF-1R and clinicopathologic characterization in patients with HDLS.

PMID 8981357 1997 Biology and action of colony--stimulating factor-1.

PMID 6595937 1984 Hereditary diffuse leucoencephalopathy with spheroids.

PMID 24145216 2013 CSF1R mutations in hereditary diffuse leukoencephalopathy with spheroids are loss of function.

PMID 23408870 2013 CSF1R mutations link POLD and HDLS as a single disease entity.

PMID 19487654 2009 Leukoencephalopathy with spheroids (HDLS) and pigmentary leukodystrophy (POLD): a single entity?

PMID 23411710 2013 Early involvement of the corpus callosum in a patient with hereditary diffuse leukoencephalopathy with spheroids carrying the de novo K793T mutation of CSF1R.

PMID 18794495 2008 Insights into the dynamics of hereditary diffuse leukoencephalopathy with axonal spheroids.

PMID 22843259 2012 MRI characteristics and scoring in HDLS due to CSF1R gene mutations.

PMID 22197934 2011 Mutations in the colony stimulating factor 1 receptor (CSF1R) gene cause hereditary diffuse leukoencephalopathy with spheroids.

PMID 22098561 2012 Update of the original HDLS kindred: divergent clinical courses.

rs917027829 in CSF1R gene and Multiple congenital anomalies PMID 22843259 2012 MRI characteristics and scoring in HDLS due to CSF1R gene mutations.

PMID 23649896 2013 Genetic analysis of inherited leukodystrophies: genotype-phenotype correlations in the CSF1R gene.

PMID 22197934 2011 Mutations in the colony stimulating factor 1 receptor (CSF1R) gene cause hereditary diffuse leukoencephalopathy with spheroids.

PMID 18794495 2008 Insights into the dynamics of hereditary diffuse leukoencephalopathy with axonal spheroids.

PMID 19487654 2009 Leukoencephalopathy with spheroids (HDLS) and pigmentary leukodystrophy (POLD): a single entity?

PMID 24145216 2013 CSF1R mutations in hereditary diffuse leukoencephalopathy with spheroids are loss of function.

PMID 22098561 2012 Update of the original HDLS kindred: divergent clinical courses.

PMID 23408870 2013 CSF1R mutations link POLD and HDLS as a single disease entity.

PMID 23411710 2013 Early involvement of the corpus callosum in a patient with hereditary diffuse leukoencephalopathy with spheroids carrying the de novo K793T mutation of CSF1R.

PMID 23816250 2013 A novel A781V mutation in the CSF1R gene causes hereditary diffuse leucoencephalopathy with axonal spheroids.

PMID 24336230 2014 Haploinsufficiency of CSF-1R and clinicopathologic characterization in patients with HDLS.

PMID 8981357 1997 Biology and action of colony--stimulating factor-1.

PMID 6595937 1984 Hereditary diffuse leucoencephalopathy with spheroids.

rs1057519802 in CSF1R gene and Myeloproliferative disease PMID 18971950 2009 Imatinib sensitivity as a consequence of a CSF1R-Y571D mutation and CSF1/CSF1R signaling abnormalities in the cell line GDM1.

rs121913390 in CSF1R gene and Neoplasms PMID 25157968 2014 Prospective enterprise-level molecular genotyping of a cohort of cancer patients.