WD Repeat-Containing Protein 12

Alternative Names

  • WDR12
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OMIM Number

616620

NCBI Gene ID

55759

Uniprot ID

Q9GZL7

Length

37,413 bases

No. of Exons

13

No. of isoforms

1

Protein Name

Ribosome biogenesis protein WDR12

Molecular Mass

47708 Da

Amino Acid Count

423

Genomic Location

chr2:202,874,260-202,911,672

Gene Map Locus
2q33.2

Description

This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This protein is highly similar to the mouse WD repeat domain 12 protein at the amino acid level. The protein encoded by this gene is a component of a nucleolar protein complex that affects maturation of the large ribosomal subunit.[From RefSeq]

Epidemiology in the Arab World

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Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_018256.3:c.1195-225A>GLebanon; United Arab E...NC_000002.12:g.202881162T>CAssociation, BenignCoronary Artery Disease, Autosomal Dominant, 1NM_018256.3:c.1195-225A>G; NP_060726.3:p.?6725887
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