RAB3GAP1, RAB3GAP2 and RAB18: disease genes in Micro and Martsolf syndromes-Reference-Cited by-同舟云学术

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

Published:2012-11-21 Issue:6 Volume:40 Page:1394-1397
ISSN:0300-5127
Container-title:Biochemical Society Transactions
language:en
Short-container-title:

Author:

Handley Mark T.¹,Aligianis Irene A.

Affiliation:

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

Abstract

Micro syndrome (OMIM 60018) and Martsolf syndrome (OMIM 21270) are related rare autosomal recessive disorders characterized by ocular and neurological abnormalities and hypothalamic hypogonadism. Micro syndrome has been associated with causative mutations in three disease genes: RAB3GAP1, RAB3GAP2 and RAB18. Martsolf syndrome has been associated with a mutation in RAB3GAP2. The present review summarizes the current literature on these genes and the proteins they encode.

Publisher

Portland Press Ltd.

Subject

Biochemistry

Link

https://portlandpress.com/biochemsoctrans/article-pdf/40/6/1394/487775/bst0401394.pdf

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