| Type | Description |
|---|---|
| Definition | peripherin |
| Date | Results | Publications |
|---|---|---|
| 2020-04-04 10:28:00 | Mutation in the peripherin gene is associated cone-rod dysfunction or dominant maculopathy. | 30822235 |
| 2019-06-01 10:06:00 | Genome-wide association study of sural nerve conduction amplitude and velocity in 7045 Icelanders and find a low-frequency splice-donor variant in PRPH associated with reduced amplitude of the sural nerve action potential, but not with sural nerve conduction velocity. | 30992453 |
| 2018-07-28 11:38:00 | Desmin, Glial Fibrillary Acidic Protein, Vimentin, and Peripherin are type III intermediate filaments that have roles in health and disease [review] | 29196434 |
| 2017-11-11 12:17:00 | To discover of Phosphorylated autoantigens Peripherin as a Major Humoral Autoantigen in Type 1 Diabetes Mellitus. | 27185639 |
| 2017-08-05 10:19:00 | In patients with HD, a panel using calretinin and peripherin with or without MAP-2 may be most helpful in identifying transition zones | 26469323 |
| Type | IDs |
|---|---|
| Synonymous | NEF4, PRPH1 |
| Gene |
UniProtKB-ID:
PERI_HUMAN,
B3KWQ6_HUMAN
UniprotKB:
P41219,
B3KWQ6
UniParc:
UPI000013CF92,
UPI00005A7F8F,
UPI0000591874
EMBL:
L14565,
AK125587,
AC125611,
BC032703
Ensembl:
ENSG00000135406
KO:
hsa:5630
|
| Nucleutide sequences |
EMBL-CDS:
AAH32703.1,
AAA60190.1,
BAG54218.1
Ensembl_TRS:
ENST00000257860
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000257860
RefSeq:
XP_005269082.1,
NP_006253.2
|
| Others |
UniRef100:
UniRef100_P41219,
UniRef100_B3KWQ6
UniRef90:
UniRef90_A0A2Y9E8G2,
UniRef90_P41219
UniRef50:
UniRef50_A6QQJ3,
UniRef50_P41219
UniGene:
Hs.37044
CCDS:
CCDS8783.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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