Recombinant Human Ganglioside-induced differentiation-associated protein 1(GDAP1)

Code CSB-CF009338HU
Product Type Transmembrane Protein
Size Pls inquiry other sizes
Uniprot No. Q8TB36
Storage Buffer Tris-based buffer,50% glycerol
Species Homo sapiens (Human)
Sequence MAERQEEQRGSPPLRAEGKADAEVKLILYHWTHSFSSQKVRLVIAEKALKCEEHDVSLPL SEHNEPWFMRLNSTGEVPVLIHGENIICEATQIIDYLEQTFLDERTPRLMPDKESMYYPR VQHYRELLDSLPMDAYTHGCILHPELTVDSMIPAYATTRIRSQIGNTESELKKLAEENPD LQEAYIAKQKRLKSKLLDHDNVKYLKKILDELEKVLDQVETELQRRNEETPEEGQQPWLC GESFTLADVSLAVTLHRLKFLGFARRNWGNGKRPNLETYYERVLKRKTFNKVLGHVNNIL ISAVLPTAFRVAKKRAPKVLGTTLVVGLLAGVGYFAFMLFRKRLGSMILAFRPRPNYF
Source in vitro E.coli expression system
Gene Names GDAP1
Protein Names Recommended name: Ganglioside-induced differentiation-associated protein 1 Short name= GDAP1
Expression Region 1-358
Tag Info N-terminal 10xHis-tagged
Protein Description full length protein
Storage Store at -20°C, for extended storage, conserve at -20°C or -80°C.
Notes Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.
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Function Regulates the mitochondrial network by promoting mitochondrial fission.
Involvement in disease Charcot-Marie-Tooth disease 4A (CMT4A); Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive (CMT2RV); Charcot-Marie-Tooth disease 2K (CMT2K); Charcot-Marie-Tooth disease, recessive, intermediate type, A (CMTRIA)
Subcellular Location Mitochondrion outer membrane, Multi-pass membrane protein, Cytoplasm
Protein Families GST superfamily
Tissue Specificity Highly expressed in whole brain and spinal cord. Predominant expression in central tissues of the nervous system not only in neurons but also in Schwann cells.
Database Links

HGNC: 15968

OMIM: 214400

KEGG: hsa:54332

STRING: 9606.ENSP00000220822

UniGene: Hs.168950

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