GNB1L

Chr 22

G protein subunit beta 1 like

Also known as: DGCRK3, FKSG1, GY2, WDR14, WDVCF

NCBI Gene: 54584 ENSG00000185838 UniProt: Q9BYB4

The protein acts as a critical regulator of DNA damage response signaling by specifically regulating phosphatidylinositol 3-kinase-related protein kinase (PIKK) family proteins and contains 6 WD repeats that facilitate formation of multiprotein complexes. Mutations cause autosomal recessive intellectual disability with seizures and variable features including microcephaly and developmental delay. The gene is not highly constrained against loss-of-function variants and maps to chromosome 22q11, a region associated with DiGeorge syndrome when deleted.

ResearchSummary from RefSeq, UniProt

This gene encodes a G-protein beta-subunit-like polypeptide which is 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 protein contains 6 WD repeats and is highly expressed in the heart. The gene maps to the region on chromosome 22q11, which is deleted in DiGeorge syndrome, trisomic in derivative 22 syndrome and tetrasomic in cat-eye syndrome. Therefore, this gene may contribute to the etiology of those disorders. Transcripts from this gene share exons with some transcripts from the C22orf29 gene. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

1.05

LOEUF

Mechanism· predicted

Some data sources returned errors (1)

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