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MIGSB

Chr 21AR

WDR4 tRNA N7-guanosine methyltransferase non-catalytic subunit

Also known as: GAMOS6, MIGSB, TRM82, TRMT82, Wuho, hWH

NCBI Gene: 10785 OMIM: 618346

This protein is a WD repeat-containing protein that facilitates formation of multiprotein complexes involved in cell cycle progression, signal transduction, apoptosis, and gene regulation. Mutations cause autosomal recessive microcephaly, growth deficiency, seizures, and brain malformations. This represents a severe early-onset neurodevelopmental disorder affecting both brain structure and overall growth.

OMIM ResearchSummary from RefSeq, OMIM

This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This gene is excluded as a candidate for a form of nonsyndromic deafness (DFNB10), but is still a candidate for other disorders mapped to 21q22.3 as well as for the development of Down syndrome phenotypes. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, May 2012]

OMIM ResearchGenerating clinical summary…