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
  KO
K19289  peripheral myelin protein 22
Organism
hsa  Homo sapiens (human)
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]
 09190 Not Included in Pathway or Brite
  09193 Unclassified: signaling and cellular processes
   99992 Structural proteins
    5376 (PMP22)
SSDB
Motif
Pfam: PMP22_Claudin Claudin_2 L_HMGIC_fpl Connexin TMEM37 DUF3169 Claudin_3 DUF4064 DUF2207_C
Other DBs
NCBI-GeneID: 5376
NCBI-ProteinID: NP_000295
OMIM: 601097
HGNC: 9118
Ensembl: ENSG00000109099
UniProt: Q01453 Q6FH25
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

  All links  
Disease (7)   
   OMIM (7)   
Gene (21)   
   RefGene (4)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (12)   
   OC (1)   
Protein sequence (13)   
   UniProt (2)   
   SWISS-PROT (1)   
   RefSeq(pep) (10)   
DNA sequence (66)   
   RefSeq(nuc) (12)   
   GenBank (27)   
   EMBL (27)   
Protein domain (9)   
   Pfam (9)   
All databases (116)   

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