Lamin B Receptor

Alternative Names

  • LBR
  • LMN2R
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OMIM Number

600024

NCBI Gene ID

3930

Uniprot ID

Q14739

Length

27,320 bases

No. of Exons

16

Protein Name

Delta(14)-sterol reductase LBR

Molecular Mass

70703 Da

Amino Acid Count

615

Genomic Location

chr1:225,401,502-225,428,821

Gene Map Locus
1q42.12

Description

The protein encoded by this gene belongs to the ERG4/ERG24 family. It localized in the nuclear envelope inner membrane and anchors the lamina and the heterochromatin to the membrane. It may mediate interaction between chromatin and lamin B. Mutations of this gene has been associated with autosomal recessive HEM/Greenberg skeletal dysplasia. Alternative splicing occurs at this locus and two transcript variants encoding the same protein have been identified. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_002296.4:c.1535G>ASaudi ArabiaNC_000001.11:g.225404655C>TLikely Pathogenic, PathogenicLikely Pathogenic, Uncertain SignificanceRhizomelic Skeletal Dysplasia with or without Pelger-Huet AnomalyNG_008099.1:g.29163G>A; NM_002296.4:c.1535G>A; NP_002287.2:p.Arg512Gln754049402424332
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