Spastic paraplegia-psychomotor retardation-seizures syndrome

Definition

Spastic paraplegia-psychomotor retardation-seizures syndrome (SPPRS) is an autosomal recessive neurodevelopmental syndrome caused by loss-of-function mutations in HACE1. HACE1 is an E3 ubiquitin ligase that regulates the activity of GTPases, including Rac1 and members of the Rab family.

References:

[1]. Nadia Akawi, et al. Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families. Nat Genet. 2015 Nov;47(11):1363-9. [Content Brief]

[2]. Ronja Hollstein, et al. HACE1 deficiency causes an autosomal recessive neurodevelopmental syndrome. J Med Genet. 2015 Dec;52(12):797-803. [Content Brief]

生物医学辞典

生物医学辞典は、生物学の学術用語と専門データの包括的で専門的なデータベースです。すべての説明は、権威ある書籍や高いＩＦの文献に基づいており、知りたい生物医学用語の正確な説明を得ることができます。

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