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: 55191
MIM: 608285
HGNC: 29832
Ensembl: ENSG00000172890
Variants:
dbSNP: 55191
ClinVar: 55191
TCGA: ENSG00000172890
COSMIC: NADSYN1
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38357931 | 2024 | A metabolic signature for NADSYN1-dependent congenital NAD deficiency disorder. | 0 |
| 38357931 | 2024 | A metabolic signature for NADSYN1-dependent congenital NAD deficiency disorder. | 0 |
| 36951206 | 2023 | Clinical heterogeneity of NADSYN1-associated VCRL syndrome. | 4 |
| 36951206 | 2023 | Clinical heterogeneity of NADSYN1-associated VCRL syndrome. | 4 |
| 32938288 | 2022 | Genetic variants of vitamin D metabolism-related DHCR7/NADSYN1 locus and CYP2R1 gene are associated with clinical features of Parkinson's disease. | 2 |
| 35491967 | 2022 | Further description of two patients with biallelic variants in NADSYN1 in association with cardiac and vertebral anomalies. | 5 |
| 32938288 | 2022 | Genetic variants of vitamin D metabolism-related DHCR7/NADSYN1 locus and CYP2R1 gene are associated with clinical features of Parkinson's disease. | 2 |
| 35491967 | 2022 | Further description of two patients with biallelic variants in NADSYN1 in association with cardiac and vertebral anomalies. | 5 |
| 34681008 | 2021 | Disruptive NADSYN1 Variants Implicated in Congenital Vertebral Malformations. | 6 |
| 34681008 | 2021 | Disruptive NADSYN1 Variants Implicated in Congenital Vertebral Malformations. | 6 |
| 31883644 | 2020 | Bi-allelic Mutations in NADSYN1 Cause Multiple Organ Defects and Expand the Genotypic Spectrum of Congenital NAD Deficiency Disorders. | 18 |
| 31911602 | 2020 | Different ways to transport ammonia in human and Mycobacterium tuberculosis NAD(+) synthetases. | 5 |
| 31883644 | 2020 | Bi-allelic Mutations in NADSYN1 Cause Multiple Organ Defects and Expand the Genotypic Spectrum of Congenital NAD Deficiency Disorders. | 18 |
| 31911602 | 2020 | Different ways to transport ammonia in human and Mycobacterium tuberculosis NAD(+) synthetases. | 5 |
| 26149120 | 2015 | Vitamin D Deficiency in Uygurs and Kazaks Is Associated with Polymorphisms in CYP2R1 and DHCR7/NADSYN1 Genes. | 17 |
Citation
Dessen P
NADSYN1 (NAD synthetase 1)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/70670/nadsyn1-(nad-synthetase-1)
