Lipopolysaccharide-Responsive, Beige-Like Anchor Protein

Alternative Names

LRBA
LBA
Cell Division Cycle 4-Like Protein
CDC4L
Cdc4-Like Protein

Length

751,293 bases

No. of Exons

No. of isoforms

Protein Name

Lipopolysaccharide-Responsive and Beige-Like Anchor Protein

Molecular Mass

319108 Da

Amino Acid Count

2863

Genomic Location

chr4:150,264,435-151,015,727

Gene Map Locus

4q31.3

Description

The LRBA gene encodes a multi-domain protein belonging to the WDL-BEACH-WD protein family. The protein is made up of the Plekstrin Homology (PH) like domain, the BEACH domain and the highly conserved WD40 domain. While the exact role of LRBA has not yet been fully elucidated, it is postulated to play a role in regulating the expression of the CTLA4 gene as well as in signal transduction and vesicle trafficking to enable the secretion and membrane deposition of immune effector molecules.

Epidemiology in the Arab World

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Variant Name	Country	Genomic Location	Clinvar Clinical Significance	CTGA Clinical Significance	Condition(s)	HGVS Expressions	dbSNP	Clinvar
NM_001199282.2:c.2032C>T	Saudi Arabia	chr4:150896429	Pathogenic	Pathogenic	Immunodeficiency, Common Variable, 8, with Autoimmunity	NG_032855.1:g.124069C>T; NM_001199282.2:c.2032C>T; NP_001186211.2:p.Gln678Ter	727503780	162667
NM_001199282.2:c.2963del	Lebanon	chr4:150852747	Pathogenic	Pathogenic	Immunodeficiency, Common Variable, 8, with Autoimmunity	NG_032855.1:g.167751del; NM_001199282.2:c.2963del; NP_001186211.2:p.Asn988fs		864696
NM_001199282.2:c.865_866delGT	Lebanon; Saudi Arabia	chr4:150916429-150916430		Pathogenic	Immunodeficiency, Common Variable, 8, with Autoimmunity	NG_032855.1:g.104068_104068delGT; NM_001199282.2:c.865_866delGT; NP_001186211.2:p.Cys289CysfsX292
NM_006726.4:c.534del	United Arab Emirates	NC_000004.12:g.150928531del	Pathogenic			NG_032855.1:g.91967del; NM_006726.4:c.534del; NP_006717.2:p.Asp179IlefsTer16		1687335
NM_006726.4:c.6657_6658delCT	Saudi Arabia	chr4:150471666-150471667		Pathogenic	Immunodeficiency, Common Variable, 8, with Autoimmunity	NG_032855.1:g.548831_548832delCT; NM_006726.4:c.6657_6658delCT; NP_006717.2:p.Glu2219Aspfs*3
NM_006726.4:c.8007G>A	United Arab Emirates	NC_000004.12:g.150302668C>T				NG_032855.1:g.717830G>A; NM_006726.4:c.8007G>A; NP_006717.2:p.Trp2669Ter
NM_006726.4:c.974C>T	United Arab Emirates	NC_000004.12:g.150915648G>A				NG_032855.1:g.104850C>T; NM_006726.4:c.974C>T; NP_006717.2:p.Ala325Val

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External Links

https://ghr.nlm.nih.gov/gene/LRBA https://www.genecards.org/cgi-bin/carddisp.pl?gene=LRBA

Contributors

Sami Bizzari: 20.07.2022
Sayeeda Hana: 29.08.2019
Sayeeda Hana: 17.10.2016

Edit History

Sami Bizzari: 20.07.2022
Sayeeda Hana: 29.08.2019
Sami Bizzari: 07.12.2016

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