Cereblon

Alternative Names

  • CRBN
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OMIM Number

609262

NCBI Gene ID

51185

Uniprot ID

Q96SW2

Length

31,228 bases

No. of Exons

12

No. of isoforms

2

Protein Name

Protein cereblon

Molecular Mass

50546 Da

Amino Acid Count

442

Genomic Location

chr3:3,148,489-3,179,716

Gene Map Locus
3p26.2

Description

This gene encodes a protein related to the Lon protease protein family. In rodents and other mammals this gene product is found in the cytoplasm localized with a calcium channel membrane protein, and is thought to play a role in brain development. Mutations in this gene are associated with autosomal recessive nonsyndromic cognitive disability. Multiple transcript variants encoding different isoforms have been found for this gene. [From RefSeq]

Epidemiology in the Arab World

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Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_016302.4:c.1016+1G>CUnited Arab EmiratesNC_000003.12:g.3153423C>GUncertain SignificanceIntellectual Developmental Disorder, Autosomal Recessive 2NG_016864.2:g.31295G>C; NM_016302.4:c.1016+1G>C; NP_057386.2:p.?
NM_016302.4:c.835+1G>ASyriaNC_000003.12:g.3154746C>TPathogenicPathogenicIntellectual Developmental Disorder, Autosomal Recessive 2NG_016864.2:g.29972G>A; NM_016302.4:c.835+1G>A; NP_057386.2:p.?1226252969984705
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