Title : Identification of a homozygous missense mutation in LRP2 and a hemizygous missense mutation in TSPYL2 in a family with mild intellectual disability.

Pub. Date : 2016 Apr

PMID : 26529358






1 Functional Relationships(s)
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Compound Name
Protein Name
Organism
1 The LRP2 mutation identified here is located in one of the low-density lipoprotein-receptor class A domains, which is a cysteine-rich repeat that plays a central role in mammalian cholesterol metabolism, suggesting that alteration of cholesterol processing pathway can contribute to ID. Cysteine LDL receptor related protein 2 Homo sapiens