The protein encoded by this gene is involved in guidance of olfactory axon projections and migration of luteinizing hormone-releasing hormone neurons. Defects in this gene are a cause of idiopathic hypogonadotropic hypogonadism (IHH). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2010] See more...

Aliases for NSMF Gene

Aliases for NSMF Gene

  • NMDA Receptor Synaptonuclear Signaling And Neuronal Migration Factor 2 3 4 5
  • Nasal Embryonic LHRH Factor 2 3 4
  • Nasal Embryonic Luteinizing Hormone-Releasing Hormone Factor 3 4
  • NELF 3 4
  • HH9 3

External Ids for NSMF Gene

Previous HGNC Symbols for NSMF Gene

  • NELF

Previous GeneCards Identifiers for NSMF Gene

  • GC09M140343

Summaries for NSMF Gene

Entrez Gene Summary for NSMF Gene

  • The protein encoded by this gene is involved in guidance of olfactory axon projections and migration of luteinizing hormone-releasing hormone neurons. Defects in this gene are a cause of idiopathic hypogonadotropic hypogonadism (IHH). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2010]

GeneCards Summary for NSMF Gene

NSMF (NMDA Receptor Synaptonuclear Signaling And Neuronal Migration Factor) is a Protein Coding gene. Diseases associated with NSMF include Hypogonadotropic Hypogonadism 9 With Or Without Anosmia and Kallmann Syndrome. Gene Ontology (GO) annotations related to this gene include calcium-dependent protein binding.

UniProtKB/Swiss-Prot Summary for NSMF Gene

  • Couples NMDA-sensitive glutamate receptor signaling to the nucleus and triggers long-lasting changes in the cytoarchitecture of dendrites and spine synapse processes. Part of the cAMP response element-binding protein (CREB) shut-off signaling pathway. Stimulates outgrowth of olfactory axons and migration of gonadotropin-releasing hormone (GnRH) and luteinizing-hormone-releasing hormone (LHRH) neuronal cells.

Gene Wiki entry for NSMF Gene

Additional gene information for NSMF Gene

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

Genomics for NSMF Gene

GeneHancer (GH) Regulatory Elements for NSMF Gene

Promoters and enhancers for NSMF 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
GH09J137456 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 500.7 +0.8 784 4.9 HNRNPK ZBTB40 EP300 POLR2G USF1 SP1 JUND ZFX ZIC2 POLR2A NSMF ANAPC2 EHMT1 DPH7 MAN1B1 SEC16A NDOR1 SNHG7 ENSG00000255585 MIR7114
GH09J137221 Promoter/Enhancer 2.2 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 2.6 +232.5 232505 11.7 HNRNPK ZBTB40 ZNF217 CTCF SIN3A NRF1 POLR2G SP1 GTF2E2 ZFX RNF224 lnc-RNF208-1 ENTR1 EHMT1 SNHG7 SEC16A DPH7 ANAPC2 RNF208 CYSRT1
GH09J137478 Enhancer 1.1 Ensembl ENCODE CraniofacialAtlas dbSUPER 4.6 -20.2 -20173 2.3 USF1 TEAD4 TFDP1 POLR2A GABPB1 GATA3 FOXP2 SMARCA4 TEAD3 ZNF580 lnc-PNPLA7-1 NOXA1 NSMF lnc-NOXA1-2 PNPLA7
GH09J137233 Promoter/Enhancer 2.9 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 1.2 +220.1 220147 11.7 HNRNPK ZBTB40 ZNF217 CTCF SIN3A NRF1 TCF12 POLR2G USF1 SP1 TUBB4B INPP5E ANAPC2 EHMT1 DPH7 ENTR1 ENSG00000255585 SNHG7 SNAPC4 NDOR1
GH09J137446 Enhancer 0.8 FANTOM5 ENCODE 2.1 +12.0 11953 1.2 POLR2G ZIC2 RBM22 POLR2A SUPT5H TAF15 SSRP1 GLIS1 PAF1 KLF1 NSMF EHMT1 ANAPC2 HSALNG0075426 MIR7114
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around NSMF on UCSC Golden Path with GeneCards custom track

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

Genomic Locations for NSMF Gene

Genomic Locations for NSMF Gene
chr9:137,447,570-137,459,357
(GRCh38/hg38)
Size:
11,788 bases
Orientation:
Minus strand
chr9:140,342,022-140,353,786
(GRCh37/hg19)
Size:
11,765 bases
Orientation:
Minus strand

Genomic View for NSMF Gene

Genes around NSMF on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for NSMF Gene

Proteins for NSMF Gene

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

    Protein Symbol:
    Q6X4W1-NSMF_HUMAN
    Recommended name:
    NMDA receptor synaptonuclear signaling and neuronal migration factor
    Protein Accession:
    Q6X4W1
    Secondary Accessions:
    • Q2TB96
    • Q6X4V7
    • Q6X4V8
    • Q6X4V9
    • Q8N2M2
    • Q96SY1
    • Q9NPM4
    • Q9NPP3
    • Q9NPS3

    Protein attributes for NSMF Gene

    Size:
    530 amino acids
    Molecular mass:
    60143 Da
    Quaternary structure:
    • Interacts with KPNA1; the interaction occurs in a calcium-independent manner after synaptic NMDA receptor stimulation and is required for nuclear import of NSMF but is competed by CABP1. Interacts (via the central NLS-containing motif region) with CABP1 (via EF-hands 1 and 2); the interaction occurs in a calcium-dependent manner after synaptic NMDA receptor stimulation and prevents the nuclear import of NSMF. Cannot be competed by calmodulin (By similarity).
    Miscellaneous:
    • NSMF mRNAs expressed in the hippocampus exhibit a prominent dendritic localization which is mediated by a dendritic targeting element (DTE) residing in the 3'-untranslated region (3'UTR). Transport from dendrites to the nucleus is induced by NMDA receptor activation and results in a rapid stripping of synaptic contacts and a reduction of dendritic complexity (By similarity).
    SequenceCaution:
    • Sequence=BAB55139.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

    Alternative splice isoforms for NSMF Gene

neXtProt entry for NSMF Gene

Post-translational modifications for NSMF Gene

  • Proteolytically processed after NMDA receptor activation. Cleaved in a calcium-dependent and calpain-sensitive manner. Calpain cleavage is essential for the translocation process from dendrites to the nucleus (By similarity).
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for NSMF Gene

Domains & Families for NSMF Gene

Gene Families for NSMF Gene

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

Protein Domains for NSMF Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for NSMF Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ75435, highly similar to Homo sapiens nasal embryonic luteinizing hormone-releasing hormone factor, mRNA (A8K7L5_HUMAN)
  • Nasal embryonic luteinizing hormone-releasing hormone factor (NELF_HUMAN)
  • NELF protein (Q96AQ0_HUMAN)
  • NELF protein (Q9BT66_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q6X4W1

UniProtKB/Swiss-Prot:

NSMF_HUMAN :
  • Belongs to the NSMF family.
Family:
  • Belongs to the NSMF family.
genes like me logo Genes that share domains with NSMF: view

Function for NSMF Gene

Molecular function for NSMF Gene

UniProtKB/Swiss-Prot Function:
Couples NMDA-sensitive glutamate receptor signaling to the nucleus and triggers long-lasting changes in the cytoarchitecture of dendrites and spine synapse processes. Part of the cAMP response element-binding protein (CREB) shut-off signaling pathway. Stimulates outgrowth of olfactory axons and migration of gonadotropin-releasing hormone (GnRH) and luteinizing-hormone-releasing hormone (LHRH) neuronal cells.

Gene Ontology (GO) - Molecular Function for NSMF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0048306 calcium-dependent protein binding ISS --
genes like me logo Genes that share ontologies with NSMF: view
genes like me logo Genes that share phenotypes with NSMF: view

Human Phenotype Ontology for NSMF Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for NSMF Gene

MGI Knock Outs for NSMF:
  • Nsmf Nsmf<tm1.2Mrkr>
  • Nsmf Nsmf<tm1a(KOMP)Wtsi>

Animal Model Products

CRISPR Products

miRNA for NSMF Gene

Inhibitory RNA Products

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

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Transcription Factor Targets and HOMER Transcription for NSMF Gene

Localization for NSMF Gene

Subcellular locations from UniProtKB/Swiss-Prot for NSMF Gene

Nucleus. Nucleus envelope. Nucleus membrane. Nucleus matrix. Cytoplasm. Cytoplasm, cell cortex. Cytoplasm, cytoskeleton. Cell membrane; Peripheral membrane protein. Cell projection, dendrite. Cell junction, synapse. Cell junction, synapse, synaptosome. Cell junction, synapse, postsynaptic density. Membrane. Note=Found on the outside of the luteinizing-hormone-releasing hormone (LHRH) cell membrane and axons projecting from the olfactory pit and epithelium. Associates with transcriptionally active chromatin regions. Detected at the nuclear membranes of CA1 neurons. Cortical cytoskeleton. Localized in proximal apical dendrites. Colocalizes with CABP1 in dendrites and dendritic spines. Myristoylation is a prerequisite for extranuclear localization. Translocates from dendrites to the nucleus during NMDA receptor-dependent long-term potentiation (LTP) induction of synaptic transmission at Schaffer collateral/CA1 synapses of hippocampal primary neurons and in a importin-dependent manner (By similarity). {ECO:0000250}.

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 NSMF gene
Compartment Confidence
nucleus 5
cytoskeleton 4
plasma membrane 3
mitochondrion 2
extracellular 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for NSMF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA,IEA 20025934
GO:0005635 nuclear envelope ISS --
GO:0005654 nucleoplasm IDA --
GO:0005719 nuclear euchromatin ISS --
GO:0005737 cytoplasm IEA,IDA 20025934
genes like me logo Genes that share ontologies with NSMF: view

Pathways & Interactions for NSMF Gene

PathCards logo

SuperPathways for NSMF Gene

No Data Available

Gene Ontology (GO) - Biological Process for NSMF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0035307 positive regulation of protein dephosphorylation ISS --
GO:0043523 regulation of neuron apoptotic process ISS --
GO:0048168 regulation of neuronal synaptic plasticity ISS --
GO:0048814 regulation of dendrite morphogenesis ISS --
GO:0071230 cellular response to amino acid stimulus ISS --
genes like me logo Genes that share ontologies with NSMF: view

No data available for Pathways by source and SIGNOR curated interactions for NSMF Gene

Drugs & Compounds for NSMF Gene

(2) Drugs for NSMF Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(2) Additional Compounds for NSMF Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with NSMF: view

Transcripts for NSMF Gene

mRNA/cDNA for NSMF Gene

5 REFSEQ mRNAs :
24 NCBI additional mRNA sequence :
10 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 NSMF

Clone Products

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

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

Relevant External Links for NSMF Gene

GeneLoc Exon Structure for
NSMF

Expression for NSMF Gene

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

mRNA differential expression in normal tissues according to GTEx for NSMF Gene

This gene is overexpressed in Brain - Hippocampus (x6.6), Brain - Amygdala (x4.2), Brain - Cortex (x4.2), and Brain - Anterior cingulate cortex (BA24) (x4.1).

Protein differential expression in normal tissues from HIPED for NSMF Gene

This gene is overexpressed in Bone (63.7).

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



Protein tissue co-expression partners for NSMF Gene

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

SOURCE GeneReport for Unigene cluster for NSMF Gene:

Hs.455336

mRNA Expression by UniProt/SwissProt for NSMF Gene:

Q6X4W1-NSMF_HUMAN
Tissue specificity: Highly expressed in adult and fetal brain. Weakly expressed in heart, liver, spleen, testis, small intestine, skeletal muscle, peripheral white blood cells and kidney.

Evidence on tissue expression from TISSUES for NSMF Gene

  • Nervous system(4.9)
  • Intestine(4.4)

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

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • eye
  • face
  • head
  • hypothalamus
  • jaw
  • larynx
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • olfactory bulb
  • pharynx
  • pituitary gland
  • skull
  • vocal cord
Thorax:
  • breast
  • chest wall
  • clavicle
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • kidney
Pelvis:
  • fallopian tube
  • ovary
  • pelvis
  • penis
  • prostate
  • testicle
  • uterus
  • vagina
  • vas deferens
  • vulva
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • hair
  • peripheral nervous system
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with NSMF: view

Orthologs for NSMF Gene

This gene was present in the common ancestor of chordates.

Orthologs for NSMF Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NSMF 31
  • 100 (a)
OneToOne
dog
(Canis familiaris)
Mammalia -- 31
  • 92 (a)
OneToMany
NSMF 30
  • 91.01 (n)
-- 31
  • 87 (a)
OneToMany
cow
(Bos Taurus)
Mammalia NSMF 31 30
  • 91.22 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Nsmf 17 31 30
  • 89.81 (n)
rat
(Rattus norvegicus)
Mammalia Nsmf 30
  • 89.81 (n)
oppossum
(Monodelphis domestica)
Mammalia NSMF 31
  • 84 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NSMF 31
  • 70 (a)
OneToOne
chicken
(Gallus gallus)
Aves NSMF 31
  • 77 (a)
OneToOne
NELF 30
  • 74.17 (n)
lizard
(Anolis carolinensis)
Reptilia NSMF 31
  • 81 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia nsmf 30
  • 72.12 (n)
zebrafish
(Danio rerio)
Actinopterygii nsmfa 31 30
  • 67.12 (n)
OneToMany
nsmfb 31
  • 54 (a)
OneToMany
Species where no ortholog for NSMF 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)
  • fruit fly (Drosophila melanogaster)
  • 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 squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for NSMF Gene

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

Paralogs for NSMF Gene

(2) SIMAP similar genes for NSMF Gene using alignment to 5 proteins:

  • NSMF_HUMAN
  • F5GZW0_HUMAN
  • F5H603_HUMAN
  • Q5T358_HUMAN
  • Q5T359_HUMAN
genes like me logo Genes that share paralogs with NSMF: view

No data available for Paralogs for NSMF Gene

Variants for NSMF Gene

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

SNP ID Clinical significance and condition Chr 09 pos Variation AA Info Type
638190 Uncertain Significance: Hypogonadotropic hypogonadism 9 with or without anosmia 137,450,231(-) G/A MISSENSE_VARIANT
673329 Benign: not provided 137,449,752(-) C/T INTRON_VARIANT
673559 Benign: not provided 137,449,558(-) C/T INTRON_VARIANT
674237 Benign: not provided 137,455,835(-) C/T INTRON_VARIANT
676994 Benign: not provided 137,453,372(-) G/C INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for NSMF Gene

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

Variant ID Type Subtype PubMed ID
esv24595 CNV gain 19812545
esv2662424 CNV deletion 23128226
esv2739449 CNV deletion 23290073
esv2739451 CNV deletion 23290073
esv2739452 CNV deletion 23290073
esv2739453 CNV deletion 23290073
nsv524322 CNV loss 19592680
nsv616021 CNV loss 21841781
nsv831762 CNV loss 17160897
nsv8586 CNV gain 18304495
nsv951208 CNV deletion 24416366

Variation tolerance for NSMF Gene

Residual Variation Intolerance Score: 18% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.62; 13.24% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NSMF Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for NSMF Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
hypogonadotropic hypogonadism 9 with or without anosmia
  • hh9
kallmann syndrome
  • hypogonadotropic hypogonadism and anosmia
normosmic congenital hypogonadotropic hypogonadism
  • isolated congenital gonadotropin deficiency
hypogonadotropic hypogonadism
  • congenital idiopathic hypogonadotropic hypogonadism
hypogonadism
- elite association - COSMIC cancer census association via MalaCards
Search NSMF in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

NSMF_HUMAN
  • Hypogonadotropic hypogonadism 9 with or without anosmia (HH9) [MIM:614838]: A disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. In some cases, it is associated with non-reproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss. Anosmia or hyposmia is related to the absence or hypoplasia of the olfactory bulbs and tracts. Hypogonadism is due to deficiency in gonadotropin-releasing hormone and probably results from a failure of embryonic migration of gonadotropin-releasing hormone-synthesizing neurons. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism is referred to as Kallmann syndrome, whereas in the presence of a normal sense of smell, it has been termed normosmic idiopathic hypogonadotropic hypogonadism (nIHH). {ECO:0000269 PubMed:15362570, ECO:0000269 PubMed:21700882, ECO:0000269 PubMed:23643382}. Note=The disease is caused by mutations affecting distinct genetic loci, including the gene represented in this entry. The genetics of hypogonadotropic hypogonadism involves various modes of transmission. Oligogenic inheritance has been reported in some patients carrying mutations in NSMF as well as in other HH-associated genes including FGFR1 (PubMed:23643382). {ECO:0000269 PubMed:23643382}.

Additional Disease Information for NSMF

genes like me logo Genes that share disorders with NSMF: view

No data available for Genatlas for NSMF Gene

Publications for NSMF Gene

  1. NELF is a nuclear protein involved in hypothalamic GnRH neuronal migration. (PMID: 20025934) Xu N … Layman LC (Molecular and cellular endocrinology 2010) 3 4 23 54
  2. Characterization of the human nasal embryonic LHRH factor gene, NELF, and a mutation screening among 65 patients with idiopathic hypogonadotropic hypogonadism (IHH). (PMID: 15362570) Miura K … Seminara SB (Journal of human genetics 2004) 3 4 23 54
  3. Novel gene expressed in nasal region influences outgrowth of olfactory axons and migration of luteinizing hormone-releasing hormone (LHRH) neurons. (PMID: 10898796) Kramer PR … Wray S (Genes & development 2000) 2 3 23 54
  4. Screening of autosomal gene deletions in patients with hypogonadotropic hypogonadism using multiplex ligation-dependent probe amplification: detection of a hemizygosis for the fibroblast growth factor receptor 1. (PMID: 19489874) Trarbach EB … Latronico AC (Clinical endocrinology 2010) 3 23 54
  5. Cellular dynamics of the negative transcription elongation factor NELF. (PMID: 19245807) Yung TM … Handa H (Experimental cell research 2009) 3 23 54

Products for NSMF Gene

Sources for NSMF Gene