Identity
HGNC
LOCATION
Xq28
LOCUSID
ALIAS
H105E3,SDR31E1,XAP104
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: 50814
MIM: 300275
HGNC: 13398
Ensembl: ENSG00000147383
Variants:
dbSNP: 50814
ClinVar: 50814
TCGA: ENSG00000147383
COSMIC: NSDHL
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 32140747 | 2021 | Crystal structures of human NSDHL and development of its novel inhibitor with the potential to suppress EGFR activity. | 8 |
| 33169834 | 2021 | CHILD syndrome in a Malaysian adult with identification of a novel heterozygous missense mutation NSDHL c.602A>G. | 1 |
| 33219617 | 2021 | NAD(P)-dependent steroid dehydrogenase-like protein and neutral cholesterol ester hydrolase 1 serve as novel markers for early detection of gastric cancer identified using quantitative proteomics. | 10 |
| 33864166 | 2021 | NSDHL promotes triple-negative breast cancer metastasis through the TGFβ signaling pathway and cholesterol biosynthesis. | 16 |
| 32140747 | 2021 | Crystal structures of human NSDHL and development of its novel inhibitor with the potential to suppress EGFR activity. | 8 |
| 33169834 | 2021 | CHILD syndrome in a Malaysian adult with identification of a novel heterozygous missense mutation NSDHL c.602A>G. | 1 |
| 33219617 | 2021 | NAD(P)-dependent steroid dehydrogenase-like protein and neutral cholesterol ester hydrolase 1 serve as novel markers for early detection of gastric cancer identified using quantitative proteomics. | 10 |
| 33864166 | 2021 | NSDHL promotes triple-negative breast cancer metastasis through the TGFβ signaling pathway and cholesterol biosynthesis. | 16 |
| 32366230 | 2020 | NAD(P)-dependent steroid dehydrogenase-like is involved in breast cancer cell growth and metastasis. | 9 |
| 32366230 | 2020 | NAD(P)-dependent steroid dehydrogenase-like is involved in breast cancer cell growth and metastasis. | 9 |
| 31078502 | 2019 | Identification of NSDHL mutations associated with CHILD syndrome in oral verruciform xanthoma. | 4 |
| 31078502 | 2019 | Identification of NSDHL mutations associated with CHILD syndrome in oral verruciform xanthoma. | 4 |
| 30376821 | 2018 | NSDHL-containing duplication at Xq28 in a male patient with autism spectrum disorder: a case report. | 2 |
| 30376821 | 2018 | NSDHL-containing duplication at Xq28 in a male patient with autism spectrum disorder: a case report. | 2 |
| 25900314 | 2015 | A novel missense mutation in the NSDHL gene identified in a Lithuanian family by targeted next-generation sequencing causes CK syndrome. | 1 |
Citation
Dessen P
NSDHL (NAD(P) dependent steroid dehydrogenase-like)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/70981/nsdhl-(nad(p)-dependent-steroid-dehydrogenase-like)
