LRP12
Homo sapiens
Gene Name: LDL receptor related protein 12
Aliases: MIG13A, ST7
Chromosome No: 8
Chromosome Band: 8q22.3
Genetic Category: Rare single gene variant
Aliases: MIG13A, ST7
Chromosome No: 8
Chromosome Band: 8q22.3
Genetic Category: Rare single gene variant
Summary Statistics:
ASD Reports: 2
Recent Reports: 0
Annotated variants: 4
Associated CNVs: 2
Evidence score: 2
ASD Reports: 2
Recent Reports: 0
Annotated variants: 4
Associated CNVs: 2
Evidence score: 2
| Associated Disorders: |
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Relevance to Autism
LRP12 was identified as an ASD candidate gene in Wilfert et al., 2021 based on the discovery of private likely gene-disruptive (LGD) variants in this highly constrained (pLI 0.99) gene that were exclusively transmitted to four ASD probands in three independent families.
Molecular Function
This gene encodes a member of the low-density lipoprotein receptor related protein family. Probable receptor, which may be involved in the internalization of lipophilic molecules and/or signal transduction. May act as a tumor suppressor.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Recent ultra-rare inherited variants implicate new autism candidate risk genes
ASD
