GADD45A

Chr 1

growth arrest and DNA damage inducible alpha

Also known as: DDIT1, GADD45

NCBI Gene: 1647 ENSG00000116717 UniProt: P24522 OMIM: 126335

The protein regulates p38 MAPK signaling in T-cells and stimulates DNA excision repair while inhibiting cell cycle progression into S phase. Mutations cause intellectual disability with dysmorphic facies and behavioral abnormalities with autosomal dominant inheritance. The gene shows tolerance to loss-of-function variants based on population genetics data.

OMIM ResearchSummary from RefSeq, UniProt

This gene is a member of a group of genes whose transcript levels are increased following stressful growth arrest conditions and treatment with DNA-damaging agents. The protein encoded by this gene responds to environmental stresses by mediating activation of the p38/JNK pathway via MTK1/MEKK4 kinase. The DNA damage-induced transcription of this gene is mediated by both p53-dependent and -independent mechanisms. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene.[provided by RefSeq, Dec 2010]

OMIM ResearchGenerating clinical summary…

Active trials

107

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.13

LOEUF

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Mechanism