Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

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Gene Review:

GRAMD4 - GRAM domain containing 4

Homo sapiens

Synonyms: DIP, Death-inducing protein, GRAM domain-containing protein 4, KIAA0767, dA59H18.1, ...

Stöber, G. et al., Stanelle, J. et al.

Stöber, Kohlmann, Iekiera, Rubie, Gawlik, Möller-Ehrlich, Meitinger, Bettecken,

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Psychiatry related information on DIP

Systematic mutation analysis of KIAA0767 and KIAA1646 in chromosome 22q-linked periodic catatonia [1].

High impact information on DIP

We have recently identified KIAA0767 as a novel p53-independent target of E2F1 [2].
RESULTS: The mutation scan revealed 24 single nucleotide polymorphisms, among them two rare codon variants (KIAA0767: S159I; KIAA1646: V338G) [1].

Biological context of DIP

Our study excludes genetic variations in the coding and putative promoter regions of KIAA0767 and KIAA1646 as causative factors for periodic catatonia [1].
METHODS: In the positional and brain-expressed candidate genes KIAA0767 and KIAA1646, we searched for variants in the complete exons and adjacent splice-junctions as well as in parts of the 5'- and 3'-untranslated regions by means of a systematic mutation screening in individuals from chromosome 22q-linked pedigrees [1].

References

Systematic mutation analysis of KIAA0767 and KIAA1646 in chromosome 22q-linked periodic catatonia. Stöber, G., Kohlmann, B., Iekiera, M., Rubie, C., Gawlik, M., Möller-Ehrlich, K., Meitinger, T., Bettecken, T. BMC psychiatry [electronic resource]. (2005) [Pubmed]
A novel mitochondrial protein DIP mediates E2F1-induced apoptosis independently of p53. Stanelle, J., Tu-Rapp, H., Pützer, B.M. Cell Death Differ. (2005) [Pubmed]

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GRAMD4	Canis lupus familiaris
GRAMD4	Gallus gallus
Gramd4	Mus musculus
GRAMD4	Pan troglodytes
Gramd4	Rattus norvegicus
gramd4	Xenopus (Silurana) tropicalis

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