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 1

From UniProt:

Galloway-Mowat syndrome 1 (GAMOS1): A form of Galloway-Mowat syndrome, a severe renal-neurological disease characterized by early-onset nephrotic syndrome associated with microcephaly, central nervous system abnormalities, developmental delays, and a propensity for seizures. Brain anomalies include gyration defects ranging from lissencephaly to pachygyria and polymicrogyria, and cerebellar hypoplasia. Most patients show facial dysmorphism characterized by a small, narrow forehead, large/floppy ears, deep-set eyes, hypertelorism and micrognathia. Additional variable features are visual impairment and arachnodactyly. Patients may die in early childhood. GAMOS1 inheritance is autosomal recessive. [MIM:251300]

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

Molecular Location: base pairs 84,641,495 to 84,654,343 on chromosome 15 (Homo sapiens Annotation Release 109, GRCh38.p12) (NCBI)

Cytogenetic Location: 15q25.2, which is the long (q) arm of chromosome 15 at position 25.2
  • GAMOS
  • GAMOS1
  • HSPC264