Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 54332
MIM: 606598
HGNC: 15968
Ensembl: ENSG00000104381
Variants:
dbSNP: 54332
ClinVar: 54332
TCGA: ENSG00000104381
COSMIC: GDAP1
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000104381 | ENST00000220822 | Q8TB36 |
| ENSG00000104381 | ENST00000434412 | Q8TB36 |
| ENSG00000104381 | ENST00000522568 | E5RGI2 |
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36912213 | 2023 | Differential effects of Mendelian GDAP1 clinical variants on mitochondria-lysosome membrane contacts sites. | 2 |
| 37797217 | 2023 | Homozygous Mutations in GDAP1 and MFN2 Genes Resulted in Autosomal Recessive Forms of Charcot-Marie-Tooth Disease in Consanguineous Pakistani Families. | 0 |
| 36912213 | 2023 | Differential effects of Mendelian GDAP1 clinical variants on mitochondria-lysosome membrane contacts sites. | 2 |
| 37797217 | 2023 | Homozygous Mutations in GDAP1 and MFN2 Genes Resulted in Autosomal Recessive Forms of Charcot-Marie-Tooth Disease in Consanguineous Pakistani Families. | 0 |
| 35509130 | 2022 | Structural insights into Charcot-Marie-Tooth disease-linked mutations in human GDAP1. | 2 |
| 35662277 | 2022 | GDAP1 loss of function inhibits the mitochondrial pyruvate dehydrogenase complex by altering the actin cytoskeleton. | 7 |
| 35509130 | 2022 | Structural insights into Charcot-Marie-Tooth disease-linked mutations in human GDAP1. | 2 |
| 35662277 | 2022 | GDAP1 loss of function inhibits the mitochondrial pyruvate dehydrogenase complex by altering the actin cytoskeleton. | 7 |
| 33372681 | 2021 | Mitochondria-lysosome membrane contacts are defective in GDAP1-related Charcot-Marie-Tooth disease. | 27 |
| 33477664 | 2021 | Mutations in GDAP1 Influence Structure and Function of the Trans-Golgi Network. | 6 |
| 33903021 | 2021 | GDAP1 mutations are frequent among Brazilian patients with autosomal recessive axonal Charcot-Marie-Tooth disease. | 2 |
| 34470922 | 2021 | Novel compound heterozygous missense mutations in GDAP1 cause Charcot-Marie-Tooth type 4A. | 0 |
| 33372681 | 2021 | Mitochondria-lysosome membrane contacts are defective in GDAP1-related Charcot-Marie-Tooth disease. | 27 |
| 33477664 | 2021 | Mutations in GDAP1 Influence Structure and Function of the Trans-Golgi Network. | 6 |
| 33903021 | 2021 | GDAP1 mutations are frequent among Brazilian patients with autosomal recessive axonal Charcot-Marie-Tooth disease. | 2 |
Citation
Dessen P
GDAP1 (ganglioside induced differentiation associated protein 1)
Atlas Genet Cytogenet Oncol Haematol. 2010-03-01
Online version: http://atlasgeneticsoncology.org/gene/52818/gdap1
