REEP3
Homo sapiens
Gene Name: receptor accessory protein 3
Aliases: C10orf74
Chromosome No: 10
Chromosome Band: 10q21.3
Genetic Category: Rare single gene variant
Aliases: C10orf74
Chromosome No: 10
Chromosome Band: 10q21.3
Genetic Category: Rare single gene variant
Summary Statistics:
ASD Reports: 3
Recent Reports: 0
Annotated variants: 1
Associated CNVs: 5
Evidence score: null
ASD Reports: 3
Recent Reports: 0
Annotated variants: 1
Associated CNVs: 5
Evidence score: null
| Associated Disorders: |
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Relevance to Autism
Rare mutation in the REEP3 gene has been identified with autism (Castermans et al., 2007).
Molecular Function
one of the six human homologs of yeast Yop1p, a probable regulator of cellular v esicle trafficking between the endoplasmatic reticulum and the Golgi network.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Identification and characterization of the TRIP8 and REEP3 genes on chromosome 10q21.3 as novel candidate genes for autism.
ASD
Highly Cited
A class of membrane proteins shaping the tubular endoplasmic reticulum.
Highly Cited
Yop1p, the yeast homolog of the polyposis locus protein 1, interacts with Yip1p and negatively regulates cell growth.
