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Gene Review:

MICU2 - mitochondrial calcium uptake 2

Homo sapiens

Synonyms: 1110008L20Rik, Calcium uptake protein 2, mitochondrial, EF-hand domain-containing family member A1, EFHA1

Lin, P.T. et al., Matsumoto, N. et al.

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High impact information on EFHA1

DCAMKL1 was mapped to chromosome 13q13 by fluorescence in situ hybridization [1].
DCAMKL1 consists of at least 18 exons ranging from 58 to 3359 bp in length [1].
The homology to DCX suggested that DCAMKL1 may regulate microtubules, as well as mediate a phosphorylation-dependent signal transduction pathway [2].
Overexpressed DCAMKL1 leads to striking microtubule bundling in cell lines and cultured primary neural cells [2].
Because DCAMKL1 is coexpressed with DCX, the two proteins form a potentially mutually regulatory network linking calcium signaling and microtubule dynamics [2].

Anatomical context of EFHA1

However, elimination of the kinase activity of DCAMKL1 has no detectable effect on its microtubule polymerization activity [2].

Analytical, diagnostic and therapeutic context of EFHA1

Northern blot analysis showed DCAMKL1 to be predominantly expressed in human fetal brain as a major transcript of about 5.8 kb [1].

References

Genomic structure, chromosomal mapping, and expression pattern of human DCAMKL1 (KIAA0369), a homologue of DCX (XLIS). Matsumoto, N., Pilz, D.T., Ledbetter, D.H. Genomics (1999) [Pubmed]
DCAMKL1 encodes a protein kinase with homology to doublecortin that regulates microtubule polymerization. Lin, P.T., Gleeson, J.G., Corbo, J.C., Flanagan, L., Walsh, C.A. J. Neurosci. (2000) [Pubmed]

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