Ganglioside-induced differentiation-associated protein 1 (GDAP1) Recombinant Protein | GDAP1 recombinant protein
Recombinant Human Ganglioside-induced differentiation-associated protein 1 (GDAP1)
Repeated freezing and thawing is not recommended. Store working aliquots at 4 degree C for up to one week.
NCBI and Uniprot Product Information
NCBI Description
This gene encodes a member of the ganglioside-induced differentiation-associated protein family, which may play a role in a signal transduction pathway during neuronal development. Mutations in this gene have been associated with various forms of Charcot-Marie-Tooth Disease and neuropathy. Two transcript variants encoding different isoforms and a noncoding variant have been identified for this gene. [provided by RefSeq, Feb 2012]
Uniprot Description
GDAP1: the ganglioside-induced differentiation associated protein-1 gene causes autosomal recessive demyelinating or axonal Charcot-Marie-Tooth neuropathy (CMT).
Protein type: Membrane protein, multi-pass
Chromosomal Location of Human Ortholog: 8q21.11
Cellular Component: cytoplasm; integral to mitochondrial outer membrane; membrane; mitochondrion; nucleus
Molecular Function: glutathione transferase activity
Biological Process: glutathione metabolic process; mitochondrial fission; mitochondrial fusion; protein targeting to mitochondrion; response to retinoic acid
Disease: Charcot-marie-tooth Disease, Axonal, Type 2k; Charcot-marie-tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive; Charcot-marie-tooth Disease, Recessive Intermediate A; Charcot-marie-tooth Disease, Type 4a