Identity
HGNC
LOCATION
14q32.31
LOCUSID
ALIAS
CMT2O,DHC1,DHC1a,DNCH1,DNCL,DNECL,DYHC,Dnchc1,HL-3,SMALED1,p22
FUSION GENES
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: 1778
MIM: 600112
HGNC: 2961
Ensembl: ENSG00000197102
Variants:
dbSNP: 1778
ClinVar: 1778
TCGA: ENSG00000197102
COSMIC: DYNC1H1
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37903666 | 2024 | DYNC1H1 variants associated with infant-onset epilepsy without neurodevelopmental disorders. | 0 |
| 37903666 | 2024 | DYNC1H1 variants associated with infant-onset epilepsy without neurodevelopmental disorders. | 0 |
| 36175372 | 2023 | DYNC1H1-related epilepsy: Genotype-phenotype correlation. | 2 |
| 36720598 | 2023 | [Analysis of 4 children with DYNC1H1 gene related spinal muscular atrophy with lower extremity predominant 1]. | 0 |
| 36882741 | 2023 | Muscle and bone characteristics of a Chinese family with spinal muscular atrophy, lower extremity predominant 1 (SMALED1) caused by a novel missense DYNC1H1 mutation. | 1 |
| 36175372 | 2023 | DYNC1H1-related epilepsy: Genotype-phenotype correlation. | 2 |
| 36720598 | 2023 | [Analysis of 4 children with DYNC1H1 gene related spinal muscular atrophy with lower extremity predominant 1]. | 0 |
| 36882741 | 2023 | Muscle and bone characteristics of a Chinese family with spinal muscular atrophy, lower extremity predominant 1 (SMALED1) caused by a novel missense DYNC1H1 mutation. | 1 |
| 34535505 | 2022 | A novel variant in DYNC1H1 could contribute to human amyotrophic lateral sclerosis-frontotemporal dementia spectrum. | 8 |
| 35099838 | 2022 | De novo DYNC1H1 mutation causes infantile developmental and epileptic encephalopathy with brain malformations. | 3 |
| 35601740 | 2022 | A Prognosis Marker Dynein Cytoplasmic 1 Heavy Chain 1 Correlates with EMT and Immune Signature in Liver Hepatocellular Carcinoma by Bioinformatics and Experimental Analysis. | 8 |
| 34535505 | 2022 | A novel variant in DYNC1H1 could contribute to human amyotrophic lateral sclerosis-frontotemporal dementia spectrum. | 8 |
| 35099838 | 2022 | De novo DYNC1H1 mutation causes infantile developmental and epileptic encephalopathy with brain malformations. | 3 |
| 35601740 | 2022 | A Prognosis Marker Dynein Cytoplasmic 1 Heavy Chain 1 Correlates with EMT and Immune Signature in Liver Hepatocellular Carcinoma by Bioinformatics and Experimental Analysis. | 8 |
| 34092403 | 2021 | Two cases of DYNC1H1 mutations with intractable epilepsy. | 5 |
Citation
Dessen P
DYNC1H1 (dynein cytoplasmic 1 heavy chain 1)
Atlas Genet Cytogenet Oncol Haematol. 2014-06-01
Online version: http://atlasgeneticsoncology.org/gene/54039/dync1h1-(dynein-cytoplasmic-1-heavy-chain-1)
