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RAB3GAP1, RAB3GAP2 and RAB18: disease genes in Micro and Martsolf syndromes

Mark T Handley1, Irene A Aligianis

  • 1MRC Human Genetics Unit, MRC IGMM, University of Edinburgh, Western General Hospital, Crewe Road, Edinburgh EH4 2XU, Scotland, UK.

Biochemical Society Transactions
|November 27, 2012
PubMed

Insights

Micro syndrome and Martsolf syndrome are rare genetic disorders affecting the eyes, brain, and hormone production. Mutations in RAB3GAP1, RAB3GAP2, and RAB18 genes are linked to these conditions.

Area of Science:

  • Genetics
  • Rare diseases
  • Endocrinology

Background:

  • Micro syndrome and Martsolf syndrome are rare autosomal recessive disorders.
  • Both conditions present with ocular, neurological, and hypothalamic hypogonadism abnormalities.

Purpose of the Study:

  • To review the current literature on genes associated with Micro syndrome and Martsolf syndrome.
  • To summarize information on RAB3GAP1, RAB3GAP2, and RAB18 genes and their encoded proteins.

Main Methods:

  • Literature review of scientific articles.
  • Analysis of genetic mutations and associated phenotypes.

Main Results:

  • Micro syndrome is associated with mutations in RAB3GAP1, RAB3GAP2, and RAB18.
  • Martsolf syndrome is linked to mutations in RAB3GAP2.
  • RAB3GAP2 mutations are implicated in both syndromes.

Conclusions:

  • The RAB3 gene family plays a crucial role in the pathogenesis of Micro and Martsolf syndromes.
  • Further research into these genes and proteins may elucidate disease mechanisms and therapeutic targets.

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