WD Repeat-Containing Protein 45

Alternative Names

  • WDR45
  • WD40 Repeat Protein Interacting Wwth Phosphoinositides 4
  • WIPI4
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OMIM Number

300526

NCBI Gene ID

11152

Uniprot ID

Q9Y484

Length

26,737 bases

No. of Exons

13

No. of isoforms

3

Protein Name

WD repeat domain phosphoinositide-interacting protein 4

Molecular Mass

39868 Da

Amino Acid Count

360

Genomic Location

chrX:49,074,441-49,101,177

Gene Map Locus
Xp11.23

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 gene has a pseudogene at chromosome 4q31.3. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene, but the biological validity and full-length nature of some variants have not been determined. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_001029896.2:c.19C>TUnited Arab EmiratesNC_000023.11:g.49078077G>APathogenicPathogenicNeurodegeneration with Brain Iron Accumulation 5NG_033004.2:g.28094C>T; NM_001029896.2:c.19C>T; NP_001025067.1:p.Arg7Ter886041382280098
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