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NDRG4
HGNC:14466
Thursday 16 October 2014
HGNC:14466 | WP:NDRG4 |
The gene NDRG4 is a member of the N-myc downregulated gene family which belongs to the alpha/beta hydrolase superfamily. The protein encoded by this gene is a cytoplasmic protein that may be involved in the regulation of mitogenic signalling in vascular smooth muscles cells. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined.
Pathology
Exome sequencing identifies a novel homozygous variant in NDRG4 in a family with infantile myofibromatosis. (25241110)
References
Exome sequencing identifies a novel homozygous variant in NDRG4 in a family with infantile myofibromatosis. Linhares ND, Freire MC, Cardenas RG, Pena HB, Bahia M, Pena SD. Eur J Med Genet. 2014 Sep 18. pii: S1769-7212(14)00171-2. doi : 10.1016/j.ejmg.2014.08.010 PMID: 25241110