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: 55907
MIM: 603316
HGNC: 18290
Ensembl: ENSG00000111726
Variants:
dbSNP: 55907
ClinVar: 55907
TCGA: ENSG00000111726
COSMIC: CMAS
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000111726 | ENST00000229329 | Q8NFW8 |
| ENSG00000111726 | ENST00000534981 | Q8NFW8 |
| ENSG00000111726 | ENST00000535610 | F5H296 |
| ENSG00000111726 | ENST00000538498 | F5GYM0 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 31495922 | 2020 | A homozygous mutation in CMAS causes autosomal recessive intellectual disability in a Kazakh family. | 2 |
| 31495922 | 2020 | A homozygous mutation in CMAS causes autosomal recessive intellectual disability in a Kazakh family. | 2 |
| 27357083 | 2016 | CMP‑N‑acetylneuraminic acid synthetase interacts with fragile X related protein 1. | 3 |
| 27357083 | 2016 | CMP‑N‑acetylneuraminic acid synthetase interacts with fragile X related protein 1. | 3 |
Citation
Dessen P
CMAS (cytidine monophosphate N-acetylneuraminic acid synthetase)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/61920/cmas-(cytidine-monophosphate-n-acetylneuraminic-acid-synthetase)
