2. Gene
  3. NFASC - neurofascin Gene

NFASC - neurofascin Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as NF; NRCAML; NEDCPMD

Gene ID: 23114 | Gene type: protein coding

About NFASC

Cytogenetic location: 1q32.1 Genomic coordinates (GRCh38): 1:204,828,652-205,022,822 (from NCBI)

This gene has 24 transcripts (splice variants), 288 orthologues, 36 paralogues and is associated with 1 phenotype. Broad expression in brain (RPKM 17.7), kidney (RPKM 6.6) and 19 other tissues.

Summary

This gene encodes an L1 family immunoglobulin cell adhesion molecule with multiple IGcam and fibronectin domains. The protein functions in neurite outgrowth, neurite fasciculation, and organization of the axon initial segment (AIS) and nodes of Ranvier on axons during early development. Both the AIS and nodes of Ranvier contain high densities of voltage-gated Na+ (Nav) channels which are clustered by interactions with cytoskeletal and scaffolding proteins including this protein, gliomedin, ankyrin 3 (ankyrin-G), and betaIV spectrin. This protein links the AIS extracellular matrix to the intracellular Cytoskeleton. This gene undergoes extensive alternative splicing, and the full-length nature of some variants has not been determined.[provided by RefSeq, May 2009]

NFASC Products(10)

mRNA Protein Name
NM_001005388.3 NP_001005388.2 neurofascin isoform 1 precursor
NM_001005389.2 NP_001005389.2 neurofascin isoform 5 precursor
NM_001160331.2 NP_001153803.1 neurofascin isoform 2 precursor
NM_001160332.2 NP_001153804.1 neurofascin isoform 3 precursor
NM_001160333.2 NP_001153805.1 neurofascin isoform 6 precursor
NM_001365986.1 NP_001352915.1 neurofascin isoform 7 precursor
NM_001378329.1 NP_001365258.1 neurofascin isoform 8 precursor
NM_001378330.1 NP_001365259.1 neurofascin isoform 9 precursor
NM_001378331.1 NP_001365260.1 neurofascin isoform 9 precursor
NM_015090.4 NP_055905.2 neurofascin isoform 4 precursor

NFASC Protein Structure

I-set

I-set: Immunoglobulin I-set domain (42 - 135)

Ig_2

Ig_2: Immunoglobulin domain (148 - 233)

I-set

I-set: Immunoglobulin I-set domain (255 - 333)

I-set

I-set: Immunoglobulin I-set domain (341 - 425)

I-set

I-set: Immunoglobulin I-set domain (447 - 518)

I-set

I-set: Immunoglobulin I-set domain (524 - 609)

fn3

fn3: Fibronectin type III domain (630 - 714)

fn3

fn3: Fibronectin type III domain (729 - 812)

fn3

fn3: Fibronectin type III domain (826 - 910)

fn3

fn3: Fibronectin type III domain (1014 - 1086)

Bravo_FIGEY

Bravo_FIGEY: Bravo-like intracellular region (1132 - 1218)

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  • 1240 a.a.
Protein Preferred Names Protein Names

neurofascin

neurofascin homolog

Recombinant NFASC Proteins

Cat. No. Product Name Accession Purity
HY-P74706 Neurofascin Protein, Human (HEK293, His) O94856-12 (I25-Q939) ≥95%
HY-P74707 Neurofascin Protein, Human (HEK293, hFc) O94856-12 (I25-Q939) ≥95%
HY-P74708 Neurofascin Protein, Human (Biotinylated, HEK293, hFc) O94856-12 (I25-Q939) ≥95%

Related Diseases

Diseases Alias
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction

NEDCPMD
Autoimmune Neuropathy
Polyradiculopathy
Demyelinating Polyneuropathy

Peripheral Demyelinating Neuropathy

Demyelinating Peripheral Neuropathy
Chronic Inflammatory Demyelinating Polyradiculoneuropathy

Chronic Inflammatory Demyelinating Polyneuropathy

Cidp

Polyradiculoneuropathy Chronic Inflammatory Demyelinating

Polyradiculoneuropathy, Chronic Inflammatory Demyelinating
Generalized Epilepsy With Febrile Seizures Plus, Type 1

GEFSP1

GEFS+1

Generalized Epilepsy With Febrile Seizures Plus 1

Gefs+, Type 1

Generalised Epilepsy With Febrile Seizures Plus 1

Generalised Epilepsy With Febrile Seizures Plus Type 1

Generalized Epilepsy With Febrile Seizures Plus Type 1

Gefs+ Type 1

Epilepsy, Generalized, With Febrile Seizures Plus, Type 1
Autoimmune Disease Of Peripheral Nervous System
Neuropathy

Peripheral Neuropathy

Peripheral Neuropathies
Autoimmune Peripheral Neuropathy
Miller Fisher Syndrome

Cranial Variant Of Gbs

Fisher'S Syndrome

Miller-Fisher Variant Of Guillain-Barre Syndrome

Miller-Fisher Syndrome

Cranial Variant Of Guillain-Barré Syndrome

Cranial Variant Of Guillain-Barre Syndrome

Fisher Syndrome
Locked-In Syndrome

Locked In Syndrome

Cerebromedullospinal Disconnection

Locked-In State

Quadriplegia
Combined Oxidative Phosphorylation Deficiency 30

COXPD30

Combined Oxidative Phosphorylation Defect Type 30

Combined Oxidative Phosphorylation Deficiency, Type 30
Masa Syndrome

L1 Syndrome

Crash Syndrome

X-Linked Hydrocephalus Syndrome

SPG1

Gareis-Mason Syndrome

Spastic Paraplegia 1, X-Linked

Corpus Callosum Hypoplasia-Retardation-Adducted Thumbs-Spasticity-Hydrocephalus Syndrome

L1cam Syndrome

Spastic Paraplegia 1

Mental Retardation, Aphasia, Shuffling Gait, And Adducted Thumbs

Clasped Thumb And Mental Retardation

Thumb, Congenital Clasped, With Mental Retardation

Adducted Thumb With Mental Retardation

Hereditary Spastic Paraplegia 1

X-Linked Complicated Hereditary Spastic Paraplegia Type 1

X-Linked Corpus Callosum Agenesis

X-Linked Spastic Paraplegia 1

L1 Disease

X-Linked Intellectual Disability - Corpus Callosum Agenesis - Spastic Quadriparesis

Adducted Thumb With Intellectual Disability

Clasped Thumb And Intellectual Disability

Intellectual Disability Aphasia Shuffling Gait Adducted Thumbs

Thumb Congenital Clasped With Intellectual Disability

X-Linked Intellectual Disability-Corpus Callosum Agenesis-Spastic Quadriparesis Syndrome

Adducted Thumbs-Mental Retardation Syndrome

Corpus Callosum Hypoplasia, Mental Retardation, Adducted Thumbs, Spastic Paraplegia, Hydrocephalus Syndrome

Mental Retardation-Clasped Thumb Syndrome

Intellectual Disability-Aphasia-Shuffling Gait-Adducted Thumbs Syndrome

Spastic Paraplegia Type 1, X-Linked

MASA

Corpus Callosum Hypoplasia-Psychomotor Retardation, Adducted Thumbs-Spastic Paraparesis-Hydrocephalus

Crash

Masa Syndrome
Hypotonia
Median Neuropathy
Plexopathy
Brachial Plexus Neuritis

Brachial Neuritis

Parsonage-Aldren-Turner Syndrome
Spinocerebellar Ataxia 5

Spinocerebellar Ataxia Type 5

SCA5

Spinocerebellar Ataxia-5

Ataxia, Spinocerebellar, Type 5
Polyneuropathy

Polyneuropathies
Generalized Epilepsy With Febrile Seizures Plus

Gefs+

Genetic Epilepsy With Febrile Seizures Plus

Generalized Epilepsy With Febrile Seizures-Plus

Genetic Epilepsy With Febrile Seizures-Plus

Epilepsy, Generalized, With Febrile Seizures Plus
Peripheral Nervous System Disease

Peripheral Neuropathy

Peripheral Nerve Disease

Peripheral Nerve Disorders

Neuropathy, Peripheral

Peripheral Neuropathy Due To Vitamin Pyridoxine Hyperalimentation
Hereditary Spastic Paraplegia

Familial Spastic Paraplegia

Hereditary Spastic Paraparesis

Strumpell-Lorrain Disease

Familial Spastic Paraparesis

Hsp

Spg

Strümpell-Lorrain Disease

Spastic Paraplegia, Hereditary

French Settlement Disease

Strumpell-Lorrain Syndrome

Fsp

Spastic Paraplegia, Familial

Spastic Paraplegia Hereditary

Spastic Paraplegia 3, Autosomal Dominant

Spastic Paraparesis

Hereditary Spastic Paralysis

Familial Spastic Paralysis

Hereditary Spastic Ataxia
Charcot-Marie-Tooth Disease

Cmt

Hmsn

Hereditary Motor And Sensory Neuropathy

Pma

Cmt - Charcot-Marie-Tooth Disease

Charcot Marie Tooth Disease

Charcot-Marie-Tooth Hereditary Neuropathy

Charcot-Marie-Tooth Syndrome

Peroneal Muscular Atrophy

Hereditary Motor And Sensory Neuropathies
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS09236 NFASC Human Pre-designed siRNA Set A / Unkown

Orthologs Information

Species Symbol Source ID
Rattus norvegicus NFASC RGD RGD:620911
Macaca mulatta NFASC VGNC VGNC:75278
Canis familiaris NFASC VGNC VGNC:43764
Felis catus NFASC VGNC VGNC:63788
Mus musculus NFASC MGD MGI:104753
Bos taurus NFASC VGNC VGNC:32028
Others NFASC NCBI