Lipopolysaccharide-Responsive, Beige-Like Anchor Protein

Alternative Names

  • LRBA
  • LBA
  • Cell Division Cycle 4-Like Protein
  • CDC4L
  • Cdc4-Like Protein
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OMIM Number

606453

NCBI Gene ID

987

Uniprot ID

P50851

Length

751,293 bases

No. of Exons

61

No. of isoforms

2

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 NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_001199282.2:c.2032C>TSaudi Arabiachr4:150896429PathogenicPathogenicImmunodeficiency, Common Variable, 8, with AutoimmunityNG_032855.1:g.124069C>T; NM_001199282.2:c.2032C>T; NP_001186211.2:p.Gln678Ter727503780162667
NM_001199282.2:c.2963delLebanonchr4:150852747PathogenicPathogenicImmunodeficiency, Common Variable, 8, with AutoimmunityNG_032855.1:g.167751del; NM_001199282.2:c.2963del; NP_001186211.2:p.Asn988fs864696
NM_001199282.2:c.865_866delGTLebanon; Saudi Arabiachr4:150916429-150916430PathogenicImmunodeficiency, Common Variable, 8, with AutoimmunityNG_032855.1:g.104068_104068delGT; NM_001199282.2:c.865_866delGT; NP_001186211.2:p.Cys289CysfsX292
NM_006726.4:c.534delUnited Arab EmiratesNC_000004.12:g.150928531delPathogenicNG_032855.1:g.91967del; NM_006726.4:c.534del; NP_006717.2:p.Asp179IlefsTer161687335
NM_006726.4:c.6657_6658delCTSaudi Arabiachr4:150471666-150471667PathogenicImmunodeficiency, Common Variable, 8, with AutoimmunityNG_032855.1:g.548831_548832delCT; NM_006726.4:c.6657_6658delCT; NP_006717.2:p.Glu2219Aspfs*3
NM_006726.4:c.8007G>AUnited Arab EmiratesNC_000004.12:g.150302668C>TNG_032855.1:g.717830G>A; NM_006726.4:c.8007G>A; NP_006717.2:p.Trp2669Ter
NM_006726.4:c.974C>TUnited Arab EmiratesNC_000004.12:g.150915648G>ANG_032855.1:g.104850C>T; NM_006726.4:c.974C>T; NP_006717.2:p.Ala325Val
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