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Gene Review:

NBEAL1 - neurobeachin-like 1

Homo sapiens

Synonyms: A530083I02Rik, ALS2CR16, ALS2CR17, Amyotrophic lateral sclerosis 2 chromosomal region candidate gene 16 protein, Amyotrophic lateral sclerosis 2 chromosomal region candidate gene 17 protein, ...

Chen, J. et al.

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Disease relevance of NBEAL1

Identification and characterization of NBEAL1, a novel human neurobeachin-like 1 protein gene from fetal brain, which is up regulated in glioma [1].

High impact information on NBEAL1

The NBEAL1 gene was located on human chromosome 2q33-2q34 and consisted of 25 exons spanning about 73 kb of the human genome [1].
PSORT analysis indicated that the NBEAL1 protein contained a vacuolar-targeting motif ILPK, which suggested the protein might be located in the cell lysosome [1].
From a fetal brain cDNA library, we isolated a cDNA of 3858 bp encoding a novel human BEACH protein, which was named as human neurobeachin-like 1 (NBEAL1) gene [1].

References

Identification and characterization of NBEAL1, a novel human neurobeachin-like 1 protein gene from fetal brain, which is up regulated in glioma. Chen, J., Lu, Y., Xu, J., Huang, Y., Cheng, H., Hu, G., Luo, C., Lou, M., Cao, G., Xie, Y., Ying, K. Brain Res. Mol. Brain Res. (2004) [Pubmed]

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