WD Repeat-Containing Protein 73

Alternative Names

  • WDR73
  • HSPC264

Associated Diseases

Galloway-Mowat Syndrome 1
Back to search Result
OMIM Number

616144

NCBI Gene ID

84942

Uniprot ID

Q6P4I2

Length

15063 bases

No. of Exons

9

No. of isoforms

1

Protein Name

WD Repeat-Containing Protein 73

Molecular Mass

41685 Da

Amino Acid Count

378

Genomic Location

chr15: 84,639,281-84,654,343

Gene Map Locus
15q25.2

Description

WDR73 is a WD40 domain containing protein important in protein complex scaffolding. The gene is notably expressed in the kidney (podocytes and tubules) and in various neuronal cell types in the brain as well as cerebral endothelial cells. WDR73 functional studies indicate that it is important in microtubule function. Homozygous mutations in WDR73 have been associated with Galloway-Mowat Syndrome 1. 

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_032856.3:c.1039C>TLebanonchr15: 84643568PathogenicPathogenicGalloway-Mowat Syndrome 1NG_042034.1:g.15776C>T ; NM_032856.3:c.1039C>T; NP_116245.2:p.His347Tyr 754099015208467
NM_032856.3:c.129T>GLebanon; Moroccochr15: 84652783PathogenicPathogenicGalloway-Mowat Syndrome 1NG_042034.1:g.6561T>G ; NM_032856.3:c.129T>G ; NP_116245.2:p.Tyr43Ter 727502863162610
NM_032856.3:c.68T>ALebanon; Somaliachr15: 84653673Likely PathogenicLikely PathogenicGalloway-Mowat Syndrome 1NG_042034.1:g.5671T>A ; NM_032856.3:c.68T>A ; NP_116245.2:p.Leu23Gln 797044993208468
NM_032856.3:c.703C>TEgypt; LebanonNC_000015.10:g.84645651G>ALikely Pathogenic, PathogenicPathogenicGalloway-Mowat Syndrome 1NG_042034.1:g.13693C>T ; NM_032856.3:c.703C>T ; NP_116245.2:p.Gln235Ter 797044992208465
© CAGS 2024. All rights reserved.