KEGG   Homo sapiens (human): 4359Help
Entry
4359              CDS       T01001                                 

Gene name
MPZ, CHM, CMT1, CMT1B, CMT2I, CMT2J, CMT4E, CMTDI3, CMTDID, DSS, HMSNIB, MPP, P0
Definition
(RefSeq) myelin protein zero
  KO
K06770  myelin protein zero
Organism
hsa  Homo sapiens (human)
Pathway
hsa04514  Cell adhesion molecules (CAMs)
Disease
H00264  Charcot-Marie-Tooth disease (CMT)
H01155  Roussy-Levy syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 Environmental Information Processing
  Signaling molecules and interaction
   04514 Cell adhesion molecules (CAMs)
    4359 (MPZ)
Cell adhesion molecules [BR:hsa04515]
 Immunoglobulin superfamily
  P0
   4359 (MPZ)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: Myelin-PO_C V-set Ig_2 Ig_3 ig DUF1191 I-set Herpes_gE Protocadherin Amnionless Mucin15 IncA Tweety
Motif
Other DBs
NCBI-GeneID: 4359
NCBI-ProteinID: NP_000521
OMIM: 159440
HGNC: 7225
Ensembl: ENSG00000158887
Vega: OTTHUMG00000034341
Pharos: P25189(Tbio)
UniProt: P25189
Position
1q23.3
AA seq 248 aa AA seqDB search
MAPGAPSSSPSPILAVLLFSSLVLSPAQAIVVYTDREVHGAVGSRVTLHCSFWSSEWVSD
DISFTWRYQPEGGRDAISIFHYAKGQPYIDEVGTFKERIQWVGDPRWKDGSIVIHNLDYS
DNGTFTCDVKNPPDIVGKTSQVTLYVFEKVPTRYGVVLGAVIGGVLGVVLLLLLLFYVVR
YCWLRRQAALQRRLSAMEKGKLHKPGKDASKRGRQTPVLYAMLDHSRSTKAVSEKKAKGL
GESRKDKK
NT seq 747 nt NT seq  +upstreamnt  +downstreamnt
atggctcctggggctccctcatccagccccagccctatcctggctgtgctgctcttctct
tctttggtgctgtccccggcccaggccatcgtggtttacaccgacagggaggtccatggt
gctgtgggctcccgggtgaccctgcactgctccttctggtccagtgagtgggtctcagat
gacatctccttcacctggcgctaccagcccgaagggggcagagatgccatttcgatcttc
cactatgccaagggacaaccctacattgacgaggtggggaccttcaaagagcgcatccag
tgggtaggggaccctcgctggaaggatggctccattgtcatacacaacctagactacagt
gacaatggcacgttcacttgtgacgtcaaaaaccctccagacatagtgggcaagacctct
caggtcacgctgtatgtctttgaaaaagtgccaactaggtacggggtcgttctgggagct
gtgatcgggggtgtcctcggggtggtgctgttgctgctgctgcttttctacgtggttcgg
tactgctggctacgcaggcaggcggccctgcagaggaggctcagtgctatggagaagggg
aaattgcacaagccaggaaaggacgcgtcgaagcgcgggcggcagacgccagtgctgtat
gcaatgctggaccacagcagaagcaccaaagctgtcagtgagaagaaggccaaggggctg
ggggagtctcgcaaggataagaaatag

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