GDAP1: Ganglioside-Induced Differentiation-Associated Protein 1
A key gene in Charcot-Marie-Tooth disease and mitochondrial dynamics
Gene Information Card
| Symbol | GDAP1 |
|---|---|
| Full Name | Ganglioside-Induced Differentiation-Associated Protein 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 8q21.11 |
| NCBI Gene ID | 54332 ncbi.nlm.nih.gov/gene/54332 |
| Ensembl ID | ENSG00000104331 |
| UniProt ID | Q8TB36 |
| OMIM ID | 606598 |
| HGNC ID | 15968 |
| Aliases | CMT4A, CMT2K, GDAP1L1, ganglioside-induced differentiation-associated protein 1 |
Description
The GDAP1 gene encodes a protein involved in mitochondrial fission and dynamics, particularly in neurons. Mutations in GDAP1 are associated with Charcot-Marie-Tooth disease (CMT) types 4A and 2K, leading to peripheral neuropathy. The protein is localized to the outer mitochondrial membrane and regulates mitochondrial morphology and function.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Charcot-Marie-Tooth disease type 4A | Loss of GDAP1 function disrupts mitochondrial fission, impairing axonal transport and energy metabolism in peripheral nerves. | OMIM #214400; ClinVar pathogenic variants |
| Charcot-Marie-Tooth disease type 2K | Dominant-negative or gain-of-function mutations alter mitochondrial dynamics, leading to axonal degeneration. | OMIM #607831; ClinVar pathogenic variants |
| Hereditary motor and sensory neuropathy | GDAP1 mutations cause both demyelinating and axonal forms of CMT. | NCBI Gene; OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Spinal cord | 15.3 | Medium |
| Peripheral nerve | 18.7 | High |
| Skeletal muscle | 8.2 | Low |
| Heart | 6.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 14.2 | Neuronal model |
| U-87 MG (glioblastoma) | 10.8 | Glial model |
| HEK 293 (embryonic kidney) | 5.3 | Non-neuronal control |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.581C>T (p.Thr194Ile) | Missense | Rare | Loss of function; associated with CMT4A |
| c.358C>T (p.Arg120Trp) | Missense | Rare | Dominant-negative; associated with CMT2K |
| c.121G>A (p.Gly41Arg) | Missense | Rare | Gain of function; associated with CMT2K |
Mutation functional classification
Loss of Function (LOF)
Recessive mutations (e.g., p.Thr194Ile) impair mitochondrial fission, leading to CMT4A.
Gain of Function (GOF)
Dominant mutations (e.g., p.Gly41Arg) alter mitochondrial dynamics, causing CMT2K.
Dominant Negative (DN)
Mutations like p.Arg120Trp interfere with wild-type GDAP1 function, resulting in axonal neuropathy.
View complete mutation data：
Gene Ontology (GO)
| • mitochondrion (GO:0005739) | • autophagy (GO:0006914) |
| • mitochondrion organization (GO:0007005) | • mitochondrial fission (GO:0000266) |
| • regulation of mitochondrial membrane potential (GO:0051881) |
Pathways
• Mitochondrial fission pathway
• Ganglioside-induced differentiation pathway
Protein Summary
GDAP1 is a 358-amino acid protein localized to the outer mitochondrial membrane. It contains glutathione S-transferase (GST) domains and is involved in mitochondrial fission, autophagy, and neuronal differentiation. The protein is highly expressed in peripheral nerves and brain, and its dysfunction leads to Charcot-Marie-Tooth neuropathy.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GDAP1 Knockout HEK293 Cell Line | EDJ-KQ11401 | Human | 54332 | Details Get a Quote |
| GDAP1L1 Knockout HEK293 Cell Line | EDJ-KQ12831 | Human | 78997 | Details Get a Quote |
| GDAP1 Knockout A-549 Cell Line | EDJ-KQ39611 | Human | 54332 | Details Get a Quote |
| GDAP1 Knockout HCT 116 Cell Line | EDJ-KQ39612 | Human | 54332 | Details Get a Quote |
| GDAP1 Knockout HeLa Cell Line | EDJ-KQ39613 | Human | 54332 | Details Get a Quote |
| GDAP1L1 Knockout HeLa Cell Line | EDJ-KQ57124 | Human | 78997 | Details Get a Quote |
| GDAP1L1 Knockout A-549 Cell Line | EDJ-KQ65637 | Human | 78997 | Details Get a Quote |
| GDAP1L1 Knockout HCT 116 Cell Line | EDJ-KQ74060 | Human | 78997 | Details Get a Quote |
Displaying Records 1 To 8 Of 8 Records
