Identity
HGNC
LOCATION
4q31.3
LOCUSID
ALIAS
BGL,CDC4L,CVID8,LAB300,LBA
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: 987
MIM: 606453
HGNC: 1742
Ensembl: ENSG00000198589
Variants:
dbSNP: 987
ClinVar: 987
TCGA: ENSG00000198589
COSMIC: LRBA
RNA/Proteins
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36063261 | 2023 | Clinically Complex LRBA Deficiency Due to a Founder Allele in the Georgian Jewish Population. | 0 |
| 36063261 | 2023 | Clinically Complex LRBA Deficiency Due to a Founder Allele in the Georgian Jewish Population. | 0 |
| 33191838 | 2022 | Evaluation of Expression of LRBA and CTLA-4 Proteins in Common Variable Immunodeficiency Patients. | 5 |
| 35491430 | 2022 | Comparing the levels of CTLA-4-dependent biological defects in patients with LRBA deficiency and CTLA-4 insufficiency. | 4 |
| 36074705 | 2022 | Various phenotypes of LRBA gene with compound heterozygous variation: A case series report of pediatric cytopenia patients. | 1 |
| 33191838 | 2022 | Evaluation of Expression of LRBA and CTLA-4 Proteins in Common Variable Immunodeficiency Patients. | 5 |
| 35491430 | 2022 | Comparing the levels of CTLA-4-dependent biological defects in patients with LRBA deficiency and CTLA-4 insufficiency. | 4 |
| 36074705 | 2022 | Various phenotypes of LRBA gene with compound heterozygous variation: A case series report of pediatric cytopenia patients. | 1 |
| 33710794 | 2021 | Pulmonary manifestations of immune dysregulation in CTLA-4 haploinsufficiency and LRBA deficiency. | 4 |
| 33717114 | 2021 | Case Report: Refractory Autoimmune Gastritis Responsive to Abatacept in LRBA Deficiency. | 4 |
| 33788257 | 2021 | Comprehensive comparison between 222 CTLA-4 haploinsufficiency and 212 LRBA deficiency patients: a systematic review. | 25 |
| 33845048 | 2021 | Novel compound heterozygous LRBA deletions in a 6-month-old with neonatal diabetes. | 2 |
| 33710794 | 2021 | Pulmonary manifestations of immune dysregulation in CTLA-4 haploinsufficiency and LRBA deficiency. | 4 |
| 33717114 | 2021 | Case Report: Refractory Autoimmune Gastritis Responsive to Abatacept in LRBA Deficiency. | 4 |
| 33788257 | 2021 | Comprehensive comparison between 222 CTLA-4 haploinsufficiency and 212 LRBA deficiency patients: a systematic review. | 25 |
Citation
Dessen P
LRBA (LPS responsive beige-like anchor protein)
Atlas Genet Cytogenet Oncol Haematol. 2014-08-01
Online version: http://atlasgeneticsoncology.org/gene/54428/lrba-(lps-responsive-beige-like-anchor-protein)
