This gene encodes a member of the protein-tyrosine phosphatase family. However, the encoded protein does not appear to be a catalytically active phosphatase because it lacks several amino acids in the catalytic pocket. This protein contains a Guanine nucleotide exchange factor (GEF) domain which is necessary for its role in growth and differentiation. Mutations in this gene hav... See more...

Aliases for SBF1 Gene

Aliases for SBF1 Gene

  • SET Binding Factor 1 2 3 5
  • Inactive Phosphatidylinositol 3-Phosphatase 5 3 4
  • Myotubularin-Related Protein 5 3 4
  • DENN/MADD Domain Containing 7A 2 3
  • MTMR5 3 4
  • Myotubularin Related 5 2
  • SET-Binding Factor 1 4
  • DENND7A 3
  • CMT4B3 3
  • Sbf1 4

External Ids for SBF1 Gene

Previous GeneCards Identifiers for SBF1 Gene

  • GC22M047389
  • GC22M049017
  • GC22M049175
  • GC22M050885
  • GC22M033773

Summaries for SBF1 Gene

Entrez Gene Summary for SBF1 Gene

  • This gene encodes a member of the protein-tyrosine phosphatase family. However, the encoded protein does not appear to be a catalytically active phosphatase because it lacks several amino acids in the catalytic pocket. This protein contains a Guanine nucleotide exchange factor (GEF) domain which is necessary for its role in growth and differentiation. Mutations in this gene have been associated with Charcot-Marie-Tooth disease 4B3. Pseudogenes of this gene have been defined on chromosomes 1 and 8. [provided by RefSeq, Dec 2014]

GeneCards Summary for SBF1 Gene

SBF1 (SET Binding Factor 1) is a Protein Coding gene. Diseases associated with SBF1 include Charcot-Marie-Tooth Disease, Type 4B3 and Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive. Among its related pathways are RAB GEFs exchange GTP for GDP on RABs and Vesicle-mediated transport. Gene Ontology (GO) annotations related to this gene include phosphatase activity and Rab guanyl-nucleotide exchange factor activity. An important paralog of this gene is SBF2.

UniProtKB/Swiss-Prot Summary for SBF1 Gene

  • Acts as an adapter for the phosphatase MTMR2 to regulate MTMR2 catalytic activity and subcellular location (PubMed:12668758). May function as a guanine nucleotide exchange factor (GEF) activating RAB28 (PubMed:20937701). Promotes the exchange of GDP to GTP, converting inactive GDP-bound Rab proteins into their active GTP-bound form (PubMed:20937701). Inhibits myoblast differentiation in vitro and induces oncogenic transformation in fibroblasts (PubMed:9537414).

Gene Wiki entry for SBF1 Gene

Additional gene information for SBF1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SBF1 Gene

Genomics for SBF1 Gene

GeneHancer (GH) Regulatory Elements for SBF1 Gene

Promoters and enhancers for SBF1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH22J050467 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 503.2 +8.4 8444 7.9 CTCF SIN3A NRF1 POLR2G SP1 ZFX ZNF639 ZNF10 ZIC2 POLR2A SBF1 TUBGCP6 CPT1B MIOX DENND6B RPL23AP82 PLXNB2 RABL2B CHKB HDAC10
GH22J050481 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE dbSUPER 500.7 -1.6 -1605 1.8 USF1 CLOCK GABPA ZBTB7A MYC EZH2 RAD51 PCBP1 RBM14 CEBPB ADM2 RF00100-082 SBF1 NCAPH2 LMF2 CHKB BRD1 ENSG00000272836 ENSG00000273137 TUBGCP6
GH22J050483 Promoter/Enhancer 1.5 EPDnew Ensembl ENCODE dbSUPER 500.7 -4.4 -4378 3.2 POLR2G USF1 CTCF POLR2A CLOCK REST DNMT1 TOE1 TGIF2 ZBTB7A MIOX SBF1 lnc-MIOX-1 CHKB LMF2 NCAPH2 MAPK8IP2 SYCE3 HDAC10 PPP6R2
GH22J050480 Enhancer 0.3 Ensembl 500.7 0.0 -5 0.2 EZH2 ADM2 RF00100-082 SBF1
GH22J050443 Enhancer 1.1 Ensembl ENCODE dbSUPER 13.4 +35.7 35681 3.2 POLR2G ZNF10 ZIC2 ZBTB10 ZNF740 ZEB1 POLR2A ZBTB17 CEBPG RBM22 PLXNB2 CHKB ALG12 ADM2 SBF1 MIOX ENSG00000273137 BRD1 MAPK8IP2 ENSG00000272836
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SBF1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SBF1

Top Transcription factor binding sites by QIAGEN in the SBF1 gene promoter:
  • AP-2alpha
  • AP-2alphaA
  • AP-2beta
  • AP-2gamma
  • C/EBPalpha
  • E4BP4
  • Egr-3
  • ER-alpha
  • LCR-F1
  • RelA

Genomic Locations for SBF1 Gene

Genomic Locations for SBF1 Gene
chr22:50,444,630-50,480,296
(GRCh38/hg38)
Size:
35,667 bases
Orientation:
Minus strand
chr22:50,883,429-50,913,464
(GRCh37/hg19)
Size:
30,036 bases
Orientation:
Minus strand

Genomic View for SBF1 Gene

Genes around SBF1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SBF1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SBF1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SBF1 Gene

Proteins for SBF1 Gene

  • Protein details for SBF1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O95248-MTMR5_HUMAN
    Recommended name:
    Myotubularin-related protein 5
    Protein Accession:
    O95248
    Secondary Accessions:
    • A0A024R4Z9
    • A6PVG9
    • G5E933
    • O60228
    • Q5JXD8
    • Q5PPM2
    • Q96GR9
    • Q9UGB8

    Protein attributes for SBF1 Gene

    Size:
    1868 amino acids
    Molecular mass:
    208443 Da
    Quaternary structure:
    • Heterodimer with lipid phosphatase MTMR2 (PubMed:12668758). Interacts with KMT2A/MLL1 (via SET domain) (PubMed:9537414). Interacts with SUV39H1 (PubMed:10848615).
    SequenceCaution:
    • Sequence=AAC39675.1; Type=Frameshift; Evidence={ECO:0000305};

    Alternative splice isoforms for SBF1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SBF1 Gene

Post-translational modifications for SBF1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SBF1 Gene

No data available for DME Specific Peptides for SBF1 Gene

Domains & Families for SBF1 Gene

Gene Families for SBF1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for SBF1 Gene

GenScript: Design optimal peptide antigens:
  • SET binding factor 1 (A6PVG7_HUMAN)
  • SET binding factor 1 (A6PVG8_HUMAN)
  • SET binding factor 1 (A6PVH0_HUMAN)
  • SET-binding factor 1 (MTMR5_HUMAN)
  • SBF1 protein (Q6PGN5_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O95248

UniProtKB/Swiss-Prot:

MTMR5_HUMAN :
  • The C-terminal domain mediates interaction with MTMR2.
  • Belongs to the protein-tyrosine phosphatase family. Non-receptor class myotubularin subfamily.
Domain:
  • The C-terminal domain mediates interaction with MTMR2.
Family:
  • Belongs to the protein-tyrosine phosphatase family. Non-receptor class myotubularin subfamily.
genes like me logo Genes that share domains with SBF1: view

Function for SBF1 Gene

Molecular function for SBF1 Gene

UniProtKB/Swiss-Prot Function:
Acts as an adapter for the phosphatase MTMR2 to regulate MTMR2 catalytic activity and subcellular location (PubMed:12668758). May function as a guanine nucleotide exchange factor (GEF) activating RAB28 (PubMed:20937701). Promotes the exchange of GDP to GTP, converting inactive GDP-bound Rab proteins into their active GTP-bound form (PubMed:20937701). Inhibits myoblast differentiation in vitro and induces oncogenic transformation in fibroblasts (PubMed:9537414).
GENATLAS Biochemistry:
SET binding factor 1,expressed in skeletal muscle,heart,placenta,brain,liver and pancreas

Phenotypes From GWAS Catalog for SBF1 Gene

Gene Ontology (GO) - Molecular Function for SBF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008138 protein tyrosine/serine/threonine phosphatase activity TAS 9736772
GO:0016791 NOT phosphatase activity IMP 9537414
GO:0017112 Rab guanyl-nucleotide exchange factor activity IDA 20937701
GO:0019208 phosphatase regulator activity IEA --
genes like me logo Genes that share ontologies with SBF1: view
genes like me logo Genes that share phenotypes with SBF1: view

Human Phenotype Ontology for SBF1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SBF1 Gene

MGI Knock Outs for SBF1:

Animal Model Products

CRISPR Products

miRNA for SBF1 Gene

miRTarBase miRNAs that target SBF1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SBF1

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for SBF1 Gene

Localization for SBF1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SBF1 Gene

Cytoplasm. Cytoplasm, perinuclear region.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SBF1 gene
Compartment Confidence
cytosol 5
nucleus 4
endoplasmic reticulum 4
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear bodies (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SBF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA,IEA 16787938
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0005829 cytosol TAS --
GO:0016021 integral component of membrane TAS 9736772
GO:0016604 nuclear body IDA --
genes like me logo Genes that share ontologies with SBF1: view

Pathways & Interactions for SBF1 Gene

genes like me logo Genes that share pathways with SBF1: view

Pathways by source for SBF1 Gene

Gene Ontology (GO) - Biological Process for SBF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006470 protein dephosphorylation TAS 9736772
GO:0006661 phosphatidylinositol biosynthetic process TAS --
GO:0007283 spermatogenesis IEA --
GO:0043087 regulation of GTPase activity IEA --
genes like me logo Genes that share ontologies with SBF1: view

No data available for SIGNOR curated interactions for SBF1 Gene

Drugs & Compounds for SBF1 Gene

No Compound Related Data Available

Transcripts for SBF1 Gene

mRNA/cDNA for SBF1 Gene

2 REFSEQ mRNAs :
21 NCBI additional mRNA sequence :
8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SBF1

Alternative Splicing Database (ASD) splice patterns (SP) for SBF1 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^
SP1: -
SP2:
SP3: -
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:

ExUns: 23 ^ 24 ^ 25 ^ 26 ^ 27 ^ 28 ^ 29 ^ 30a · 30b ^ 31a · 31b ^ 32a · 32b ^ 33a · 33b · 33c ^ 34 ^ 35a · 35b · 35c ^ 36a · 36b · 36c ^ 37 ^ 38 ^ 39 ^
SP1: - -
SP2: - - -
SP3:
SP4: - -
SP5: - -
SP6: -
SP7:
SP8:
SP9:
SP10: -

ExUns: 40 ^ 41a · 41b
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:

Relevant External Links for SBF1 Gene

GeneLoc Exon Structure for
SBF1

Expression for SBF1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SBF1 Gene

Protein differential expression in normal tissues from HIPED for SBF1 Gene

This gene is overexpressed in Plasma (21.8), Frontal cortex (11.0), Peripheral blood mononuclear cells (9.1), and Brain (6.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for SBF1 Gene



Protein tissue co-expression partners for SBF1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SBF1

SOURCE GeneReport for Unigene cluster for SBF1 Gene:

Hs.589924

Evidence on tissue expression from TISSUES for SBF1 Gene

  • Muscle(4.3)
  • Blood(4.2)
  • Liver(4.1)
  • Nervous system(4)
  • Pancreas(2.2)
  • Lung(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for SBF1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • head
  • skull
Thorax:
  • lung
  • rib
  • rib cage
Pelvis:
  • pelvis
Limb:
  • foot
  • lower limb
General:
  • peripheral nerve
  • peripheral nervous system
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns with SBF1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for SBF1 Gene

Orthologs for SBF1 Gene

This gene was present in the common ancestor of animals.

Orthologs for SBF1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SBF1 31 30
  • 99.31 (n)
OneToOne
dog
(Canis familiaris)
Mammalia -- 31
  • 92 (a)
OneToMany
SBF1 30
  • 89.23 (n)
-- 31
  • 86 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia SBF1 31
  • 89 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SBF1 31 30
  • 87.67 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Sbf1 30
  • 87.66 (n)
mouse
(Mus musculus)
Mammalia Sbf1 17 31 30
  • 87.29 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 55 (a)
ManyToMany
chicken
(Gallus gallus)
Aves SBF1 31 30
  • 76.68 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SBF1 31
  • 75 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia sbf1 30
  • 66.79 (n)
zebrafish
(Danio rerio)
Actinopterygii sbf1 31 30
  • 70.48 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Sbf 31 32
  • 40 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea H28G03.6 32
  • 26 (a)
mtm-5 31
  • 25 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3355 31
  • 38 (a)
OneToMany
Species where no ortholog for SBF1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SBF1 Gene

ENSEMBL:
Gene Tree for SBF1 (if available)
TreeFam:
Gene Tree for SBF1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SBF1: view image

Paralogs for SBF1 Gene

(4) SIMAP similar genes for SBF1 Gene using alignment to 5 proteins:

  • MTMR5_HUMAN
  • G5E933_HUMAN
  • H0Y5W8_HUMAN
  • Q6PGN5_HUMAN
  • Q86TK5_HUMAN

Pseudogenes.org Pseudogenes for SBF1 Gene

genes like me logo Genes that share paralogs with SBF1: view

Variants for SBF1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SBF1 Gene

SNP ID Clinical significance and condition Chr 22 pos Variation AA Info Type
638527 Uncertain Significance: Charcot-Marie-Tooth disease, type 4B3 50,462,920(-) C/G MISSENSE_VARIANT
707840 Likely Benign: not provided 50,447,194(-) G/A MISSENSE_VARIANT
708162 Benign: not provided 50,464,410(-) A/G SYNONYMOUS_VARIANT
708501 Likely Benign: not provided 50,447,603(-) G/A SYNONYMOUS_VARIANT
709384 Benign: not provided 50,465,205(-) G/A INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for SBF1 Gene

Structural Variations from Database of Genomic Variants (DGV) for SBF1 Gene

Variant ID Type Subtype PubMed ID
nsv1073191 CNV deletion 25765185
nsv1118959 CNV deletion 24896259
nsv1160782 CNV deletion 26073780
nsv471224 CNV loss 18288195
nsv829338 CNV gain 20364138
nsv834238 CNV loss 17160897
nsv955201 CNV deletion 24416366

Variation tolerance for SBF1 Gene

Residual Variation Intolerance Score: 0.548% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.31; 70.55% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SBF1 Gene

Human Gene Mutation Database (HGMD)
SBF1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SBF1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SBF1 Gene

Disorders for SBF1 Gene

MalaCards: The human disease database

(14) MalaCards diseases for SBF1 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search SBF1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

MTMR5_HUMAN
  • Charcot-Marie-Tooth disease 4B3 (CMT4B3) [MIM:615284]: A recessive demyelinating 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. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Demyelinating neuropathies are characterized by severely reduced nerve conduction velocities (less than 38 m/sec), segmental demyelination and remyelination with onion bulb formations on nerve biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow feet. By convention autosomal recessive forms of demyelinating Charcot-Marie-Tooth disease are designated CMT4. {ECO:0000269 PubMed:23749797}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for SBF1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with SBF1: view

No data available for Genatlas for SBF1 Gene

Publications for SBF1 Gene

  1. Association of SET domain and myotubularin-related proteins modulates growth control. (PMID: 9537414) Cui X … Cleary ML (Nature genetics 1998) 2 3 4 23 54
  2. Regulation of myotubularin-related (MTMR)2 phosphatidylinositol phosphatase by MTMR5, a catalytically inactive phosphatase. (PMID: 12668758) Kim SA … Dixon JE (Proceedings of the National Academy of Sciences of the United States of America 2003) 3 4 23 54
  3. Characterization of the myotubularin dual specificity phosphatase gene family from yeast to human. (PMID: 9736772) Laporte J … Mandel JL (Human molecular genetics 1998) 2 3 4 54
  4. SET binding factor 1 (SBF1) mutation causes Charcot-Marie-Tooth disease type 4B3. (PMID: 23749797) Nakhro K … Chung KW (Neurology 2013) 3 4 54
  5. Association of genetic variants with hemorrhagic stroke in Japanese individuals. (PMID: 20198315) Yoshida T … Yamada Y (International journal of molecular medicine 2010) 3 41 54

Products for SBF1 Gene

Sources for SBF1 Gene