| Type | Description |
|---|---|
| Definition | neurofascin |
| Date | Results | Publications |
|---|---|---|
| 2020-10-10 13:02:00 | Case report of two children with auditory neuropathy spectrum disorder related to a neurofascin (NFASC) gene variant. | 31945734 |
| 2020-07-18 11:03:00 | The results link biallelic variants in NFASC isoforms at glial cells to defects in the paranodal axoglial junctions and phenotypes that range from variable neurodevelopmental impairment to weakness, central hypomyelination, and peripheral chronic demyelinating neuropathy. | 31501903 |
| 2020-05-09 13:11:00 | we describe two affected siblings from a consanguineous Italian family presenting with infantile-onset ataxia and mild demyelinating polyneuropathy who carry a homozygous NFASC missense mutation. | 30850329 |
| 2019-04-27 11:07:00 | A novel homozygous NFASC mutation chr1:204953187-C>T (rs755160624) is described. The variant creates a premature stop codon in 3 out of four NFASC human transcripts and is predicted to specifically eliminate Nfasc155 leaving neuronal Neurofascin intact. The selective absence of Nfasc155 and disruption of the paranodal junction was confirmed in patient. | 30124836 |
| 2017-10-07 12:42:00 | data suggest that NFASC is a novel regulator of non-small cell lung cancer cell motility and support a role of NFASC in the regulation of non-small cell lung cancer progression | 28418179 |
| Type | IDs |
|---|---|
| Synonymous | NF, NRCAML |
| Gene |
UniProtKB-ID:
NFASC_HUMAN,
B4DRH7_HUMAN
UniprotKB:
O94856,
B4DRH7
UniParc:
UPI00001D7D38,
UPI00003E27F8,
UPI00017A7C2B,
UPI0000470054,
UPI00005EE262,
UPI0000470053,
UPI0000237208,
UPI00005EE25F,
UPI00001C1D78,
UPI00005EE261,
UPI00005EE263,
UPI00005EE260,
UPI00005EE25E,
UPI0000470055
EMBL:
BC117674,
BX537841,
AK128699,
AL391822,
BC144454,
AK299262,
AB177861,
AK127424,
BC137013,
BC008124,
AC096675,
AB018299,
CR749402,
AK027553,
AK090639
Ensembl:
ENSG00000163531
KO:
hsa:23114
|
| Nucleutide sequences |
EMBL-CDS:
BAA34476.3,
AAI37014.1,
BAC87577.1,
BAB55195.1,
AAI17675.2,
BAG52203.1,
CAD97852.1,
AAI44455.1,
CAH18247.1,
BAD66839.1,
AAH08124.2,
BAG61289.1
Ensembl_TRS:
ENST00000401399,
ENST00000513543,
ENST00000539706,
ENST00000404907,
ENST00000360049,
ENST00000404076,
ENST00000403080,
ENST00000339876
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000385637,
ENSP00000384875,
ENSP00000438614,
ENSP00000425908,
ENSP00000353154,
ENSP00000384061,
ENSP00000385676,
ENSP00000344786
RefSeq:
XP_011507624.2,
XP_016856222.1,
XP_016856223.1,
XP_024310060.1,
XP_005245049.2,
NP_001365259.1,
XP_024310065.1,
NP_001352915.1,
XP_005245046.2,
XP_011507627.2,
XP_011507629.2,
XP_011507620.1,
XP_024310067.1,
XP_011507625.2,
XP_024310070.1,
XP_024310064.1,
XP_011507628.2,
NP_001365258.1,
XP_024310068.1,
XP_024310053.1,
XP_011507613.2,
XP_024310056.1,
XP_016856231.1,
NP_001153805.1,
XP_024310069.1,
XP_011507622.1,
NP_001005389.2,
XP_011507618.1,
XP_005245050.2,
XP_016856230.1,
NP_001153804.1,
XP_011507623.2,
XP_011507630.2,
XP_005245054.2,
NP_001153803.1,
XP_011507616.1,
XP_024310051.1,
NP_001005388.2,
XP_011507614.1,
NP_055905.2,
XP_005245048.2,
NP_001365260.1
|
| Others |
UniRef100:
UniRef100_B4DRH7,
UniRef100_O94856
UniRef90:
UniRef90_O94856,
UniRef90_B4DRH7
UniRef50:
UniRef50_O94856,
UniRef50_A0A2R9A3Z3
UniGene:
Hs.13349
CCDS:
CCDS53460.1,
CCDS53461.1,
CCDS30982.1,
CCDS53462.1
|
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|---|---|---|---|---|---|---|---|---|
| Refseq |
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