WDR73 gene

WD repeat domain 73

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

The protein encoded by this gene is thought to contain multiple WD40 repeats. WD40 repeats are motifs that contain 40-60 amino acids, and usually end with Trp-Asp (WD). This protein is found in the cytoplasm during interphase, but accumulates at the spindle poles and astral microtubules during mitosis. Reduced expression of this gene results in abnormalities in the size and morphology of the nucleus. Mutations in this gene have been associated with Galloway-Mowat syndrome PMID: 25466283), which is a rare autosomal recessive disorder that affects both the central nervous system and kidneys. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2015]

From UniProt:

May play a role in the regulation of microtubule organization and dynamics (PubMed:25466283).

From NCBI Gene:

  • Galloway-Mowat syndrome

From UniProt:

Galloway-Mowat syndrome (GAMOS): A rare, autosomal recessive disease with onset in infancy, and characterized by microcephaly, central nervous system abnormalities resulting in severe neurological impairment and intellectual disability, and nephrotic syndrome. Most patients develop seizures and nephrotic syndrome late in childhood. [MIM:251300]

Cytogenetic Location: 15q25.2, which is the long (q) arm of chromosome 15 at position 25.2

Molecular Location: base pairs 84,640,682 to 84,654,343 on chromosome 15 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 15q25.2, which is the long (q) arm of chromosome 15 at position 25.2
  • GAMOS
  • HSPC264