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: 8292
MIM: 603033
HGNC: 2226
Ensembl: ENSG00000206561
Variants:
dbSNP: 8292
ClinVar: 8292
TCGA: ENSG00000206561
COSMIC: COLQ
RNA/Proteins
Expression (GTEx)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38475910 | 2024 | COLQ-Congenital myasthenic syndrome in an Iranian cohort: the clinical and genetics spectrum. | 0 |
| 38475910 | 2024 | COLQ-Congenital myasthenic syndrome in an Iranian cohort: the clinical and genetics spectrum. | 0 |
| 36764859 | 2023 | Congenital myasthenic syndrome by mutation of the ColQ gene: Phenotypic and evolutionary profile of three Algerian families. | 0 |
| 37356721 | 2023 | The collagen ColQ binds to LRP4 and regulates the activation of the Muscle-Specific Kinase-LRP4 receptor complex by agrin at the neuromuscular junction. | 1 |
| 37646703 | 2023 | Delineation of molecular characteristics of congenital myasthenic syndromes in Indian families and review of literature. | 0 |
| 38003406 | 2023 | Molecular Analysis of a Congenital Myasthenic Syndrome Due to a Pathogenic Variant Affecting the C-Terminus of ColQ. | 0 |
| 36764859 | 2023 | Congenital myasthenic syndrome by mutation of the ColQ gene: Phenotypic and evolutionary profile of three Algerian families. | 0 |
| 37356721 | 2023 | The collagen ColQ binds to LRP4 and regulates the activation of the Muscle-Specific Kinase-LRP4 receptor complex by agrin at the neuromuscular junction. | 1 |
| 37646703 | 2023 | Delineation of molecular characteristics of congenital myasthenic syndromes in Indian families and review of literature. | 0 |
| 38003406 | 2023 | Molecular Analysis of a Congenital Myasthenic Syndrome Due to a Pathogenic Variant Affecting the C-Terminus of ColQ. | 0 |
| 34225052 | 2021 | COLQ and ARHGAP15 are Associated with Diverticular Disease and are Expressed in the Colon. | 1 |
| 34225052 | 2021 | COLQ and ARHGAP15 are Associated with Diverticular Disease and are Expressed in the Colon. | 1 |
| 33353066 | 2020 | The First Case of Congenital Myasthenic Syndrome Caused by a Large Homozygous Deletion in the C-Terminal Region of COLQ (Collagen Like Tail Subunit of Asymmetric Acetylcholinesterase) Protein. | 5 |
| 33353066 | 2020 | The First Case of Congenital Myasthenic Syndrome Caused by a Large Homozygous Deletion in the C-Terminal Region of COLQ (Collagen Like Tail Subunit of Asymmetric Acetylcholinesterase) Protein. | 5 |
| 29630557 | 2018 | Newly discovered COLQ gene mutation and its clinical features in patients with acetyl cholinesterase deficiency. | 5 |
Citation
Dessen P
COLQ (collagen like tail subunit of asymmetric acetylcholinesterase)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/62010/colq-(collagen-like-tail-subunit-of-asymmetric-acetylcholinesterase)
