KEGG   Homo sapiens (human): 10577Help
Entry
10577             CDS       T01001                                 

Gene name
NPC2, EDDM1, HE1
Definition
(RefSeq) NPC intracellular cholesterol transporter 2
  KO
K13443  
Niemann-Pick C2 protein
Organism
hsa  Homo sapiens (human)
Pathway
Lysosome
Disease
H00136  
Niemann-Pick disease type C (NPC)
Brite
KEGG Orthology (KO) [BR:hsa00001]
 Cellular Processes
  Transport and catabolism
   04142 Lysosome
    10577 (NPC2)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif Motif
Other DBs
NCBI-GeneID: 
NCBI-ProteinID: 
OMIM: 
HGNC: 
Ensembl: 
Vega: 
Pharos: 
P61916(Tbio)
UniProt: 
Structure
PDB: 

Jmol
Position
14q24.3
AA seq 151 aa AA seqDB search
MRFLAATFLLLALSTAAQAEPVQFKDCGSVDGVIKEVNVSPCPTQPCQLSKGQSYSVNVT
FTSNIQSKSSKAVVHGILMGVPVPFPIPEPDGCKSGINCPIQKDKTYSYLNKLPVKSEYP
SIKLVVEWQLQDDKNQSLFCWEIPVQIVSHL
NT seq 456 nt NT seq  +upstreamnt  +downstreamnt
atgcgtttcctggcagctacattcctgctcctggcgctcagcaccgctgcccaggccgaa
ccggtgcagttcaaggactgcggttctgtggatggagttataaaggaagtgaatgtgagc
ccatgccccacccaaccctgccagctgagcaaaggacagtcttacagcgtcaatgtcacc
ttcaccagcaatattcagtctaaaagcagcaaggccgtggtgcatggcatcctgatgggc
gtcccagttccctttcccattcctgagcctgatggttgtaagagtggaattaactgccct
atccaaaaagacaagacctatagctacctgaataaactaccagtgaaaagcgaatatccc
tctataaaactggtggtggagtggcaacttcaggatgacaaaaaccaaagtctcttctgc
tgggaaatcccagtacagatcgtttctcatctctaa

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