KEGG   Homo sapiens (human): 5376
Entry
5376              CDS       T01001                                 
Symbol
PMP22, CIDP, CMT1A, CMT1E, DSS, GAS-3, GAS3, HMSNIA, HNPP, Sp110
Name
(RefSeq) peripheral myelin protein 22 isoform 1
  KO
K19289  peripheral myelin protein 22
Organism
hsa  Homo sapiens (human)
Pathway
hsa04517  IgSF CAM signaling
Network
nt06546  IgSF CAM signaling
  Element
N01938  MPZ interactions
Disease
H00264  Charcot-Marie-Tooth disease
H01155  Roussy-Levy syndrome
H01296  Hereditary neuropathy with liability to pressure palsies
H01436  Guillain-Barre syndrome
H02359  Dejerine-Sottas disease
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09133 Signaling molecules and interaction
   04517 IgSF CAM signaling
    5376 (PMP22)
SSDB
Motif
Pfam: PMP22_Claudin Claudin_2 TM225 L_HMGIC_fpl Connexin TMEM37 Amastin Claudin_3
Other DBs
NCBI-GeneID: 5376
NCBI-ProteinID: NP_000295
OMIM: 601097
HGNC: 9118
Ensembl: ENSP00000308937.3
UniProt: Q01453 Q6FH25
LinkDB
Position
17:complement(15229779..15265326)
AA seq 160 aa
MLLLLLSIIVLHVAVLVLLFVSTIVSQWIVGNGHATDLWQNCSTSSSGNVHHCFSSSPNE
WLQSVQATMILSIIFSILSLFLFFCQLFTLTKGGRFYITGIFQILAGLCVMSAAAIYTVR
HPEWHLNSDYSYGFAYILAWVAFPLALLSGVIYVILRKRE
NT seq 483 nt   +upstreamnt  +downstreamnt
atgctcctcctgttgctgagtatcatcgtcctccacgtcgcggtgctggtgctgctgttc
gtctccacgatcgtcagccaatggatcgtgggcaatggacacgcaactgatctctggcag
aactgtagcacctcttcctcaggaaatgtccaccactgtttctcatcatcaccaaacgaa
tggctgcagtctgtccaggccaccatgatcctgtcgatcatcttcagcattctgtctctg
ttcctgttcttctgccaactcttcaccctcaccaaggggggcaggttttacatcactgga
atcttccaaattcttgctggtctgtgcgtgatgagtgctgcggccatctacacggtgagg
cacccggagtggcatctcaactcggattactcctacggtttcgcctacatcctggcctgg
gtggccttccccctggcccttctcagcggtgtcatctatgtgatcttgcggaaacgcgaa
tga

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