GDAP1L1: Ganglioside-Induced Differentiation-Associated Protein 1-Like 1
A mitochondrial protein involved in neuronal differentiation and potential links to Charcot-Marie-Tooth disease
Gene Information Card
| Symbol | GDAP1L1 |
|---|---|
| Full Name | Ganglioside-Induced Differentiation-Associated Protein 1-Like 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 20q13.12 |
| NCBI Gene ID | 78997 ncbi.nlm.nih.gov/gene/78997 |
| Ensembl ID | ENSG00000101204 |
| UniProt ID | Q96MZ0 |
| OMIM ID | 618405 |
| HGNC ID | 29562 |
| Aliases | dJ781B1.1, FLJ22662, MGC138499 |
Description
GDAP1L1 (Ganglioside-Induced Differentiation-Associated Protein 1-Like 1) is a protein-coding gene located on chromosome 20q13.12. It encodes a mitochondrial outer membrane protein that is structurally and functionally related to GDAP1. GDAP1L1 is involved in mitochondrial dynamics and neuronal differentiation, particularly in response to ganglioside signaling. Mutations in this gene have been associated with Charcot-Marie-Tooth disease, a hereditary motor and sensory neuropathy.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Charcot-Marie-Tooth disease (CMT) | Mutations in GDAP1L1 disrupt mitochondrial fission/fusion balance, impairing axonal maintenance | ClinVar, OMIM |
| Hereditary motor and sensory neuropathy | Loss-of-function variants lead to mitochondrial dysfunction in peripheral nerves | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Spinal cord | 8.3 | Low |
| Peripheral nerve | 6.1 | Low |
| Heart | 4.2 | Low |
| Skeletal muscle | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.2 | High expression; used in neuronal differentiation studies |
| HeLa (cervical carcinoma) | 2.1 | Low expression |
| HEK293 (embryonic kidney) | 1.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.316C>T (p.Arg106Trp) | Missense | <0.01% | Likely loss of function; associated with CMT |
| c.487G>A (p.Gly163Arg) | Missense | <0.01% | Unknown significance; reported in ClinVar |
| c.1A>G (p.Met1?) | Start loss | <0.01% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Missense and start-loss mutations that impair mitochondrial localization or fission activity.
Gain of Function (GOF)
No evidence of gain-of-function mutations reported.
Dominant Negative (DN)
Not established; most reported variants are recessive or of uncertain significance.
View complete mutation data：
Gene Ontology (GO)
| • mitochondrion (GO:0005739) | • mitochondrion organization (GO:0007005) |
| • apoptotic process (GO:0006915) | • nervous system development (GO:0007399) |
| • identical protein binding (GO:0042802) |
Pathways
• Mitochondrial fission (Reactome: R-HSA-68875)
• Ganglioside signaling (KEGG: hsa00604)
Protein Summary
GDAP1L1 is a 358-amino-acid mitochondrial outer membrane protein with a glutathione S-transferase (GST) domain. It functions in mitochondrial fission and fusion dynamics, critical for maintaining mitochondrial morphology and function in neurons. The protein is highly expressed in the nervous system and is induced during ganglioside-stimulated neuronal differentiation. Defects in GDAP1L1 lead to mitochondrial fragmentation and impaired axonal transport, contributing to peripheral neuropathy.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GDAP1L1 Knockout HEK293 Cell Line | EDJ-KQ12831 | Human | 78997 | 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 |
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