Type | Description |
---|---|
Definition | peripheral myelin protein 22 |
Date | Results | Publications |
---|---|---|
2021-04-03 13:31:00 | Regulating PMP22 expression as a dosage sensitive neuropathy gene. | 31586623 |
2021-02-20 13:35:00 | Treating PMP22 gene duplication-related Charcot-Marie-Tooth disease: the past, the present and the future. | 32693030 |
2021-01-23 13:01:00 | Direct relationship between increased expression and mistrafficking of the Charcot-Marie-Tooth-associated protein PMP22. | 32647009 |
2021-01-09 13:31:00 | PMP22 Gene-Associated Neuropathies: Phenotypic Spectrum in a Cohort from India. | 31993930 |
2020-09-05 13:52:00 | Genetic spectrum and clinical profiles in a southeast Chinese cohort of Charcot-Marie-Tooth disease. | 31372974 |
Type | IDs |
---|---|
Synonymous | CIDP, CMT1A, CMT1E, DSS, GAS-3, GAS3, HMSNIA, HNPP, Sp110 |
Gene |
UniProtKB-ID:
PMP22_HUMAN,
A8MU75_HUMAN,
Q6FH25_HUMAN
UniprotKB:
Q01453,
A8MU75,
Q6FH25
UniParc:
UPI00002009DF,
UPI0000131C8E
EMBL:
KR259964,
L03203,
AK290640,
CR541953,
X65968,
M94048,
BC091499,
CR541931,
D11428,
AC005703,
BC019040,
KR259963,
S61788
Ensembl:
ENSG00000109099
KO:
hsa:5376
|
Nucleutide sequences |
EMBL-CDS:
BAA01995.1,
AAA36457.1,
AAB26811.1,
AAH19040.2,
AAA58495.1,
CAA46781.1,
ALA62547.1,
ALA62546.1,
AAH91499.1,
CAG46751.1,
BAF83329.1,
CAG46729.1
Ensembl_TRS:
ENST00000312280,
ENST00000395938,
ENST00000612492,
ENST00000646419,
ENST00000644020,
ENST00000395936
|
Protein sequencees |
Ensembl_PRO:
ENSP00000379269,
ENSP00000308937,
ENSP00000484631,
ENSP00000494871,
ENSP00000379268,
ENSP00000496522
RefSeq:
XP_024306574.1,
NP_000295.1,
NP_696996.1,
NP_001268385.1,
NP_001268384.1,
NP_001317072.1,
NP_696997.1
|
Others |
UniRef100:
UniRef100_A8MU75,
UniRef100_Q01453
UniRef90:
UniRef90_A8MU75,
UniRef90_Q01453
UniRef50:
UniRef50_A8MU75,
UniRef50_P16646
UniGene:
Hs.372031,
Hs.658306
CCDS:
CCDS11168.1
|
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Refseq |
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