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

Uniprot Id

Q8TB36

Target Species

Human

Target Name

GDAP1

Target Full Name

Ganglioside-induced differentiation-associated protein 1

Target Function

Regulates the mitochondrial network by promoting mitochondrial fission.

Target Involvement

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)

Target Subcellular Location

Mitochondrion outer membrane; Multi-pass membrane protein. Cytoplasm.

Target Protein Families

GST superfamily

Target 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.

Target Synonyms

GDAP1; Ganglioside-induced differentiation-associated protein 1; GDAP1

Target Background

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.