SYNCRIP Chromosome 6
Synaptotagmin binding cytoplasmic RNA interacting protein
Upload your DNA to see your personal genotypes for variants in SYNCRIP.
What This Gene Does
This gene encodes a member of the cellular heterogeneous nuclear ribonucleoprotein (hnRNP) family. hnRNPs are RNA binding proteins that complex with heterogeneous nuclear RNA (hnRNA) and regulate alternative splicing, polyadenylation, and other aspects of mRNA metabolism and transport. The encoded protein plays a role in multiple aspects of mRNA maturation and is associated with several multiprotein complexes including the apoB RNA editing-complex and survival of motor neurons (SMN) complex. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the short arm of chromosome 20. [provided by RefSeq, Dec 2011]
Gene Info
Gene Group
"RNA binding motif containing|Heterogeneous nuclear ribonucleoproteins"
Locus Type
gene with protein product
Location
6q14.3
Ensembl
ENSG00000135316
Associated Conditions (2)
Autism spectrum disorder
SYNCRIP-associated neurodevelopmental disorder
Key Variants
RS1805615555
association
Autism spectrum disorder, Autism spectrum disorder
Health Risk
RS1808543772
association
Autism spectrum disorder, Autism spectrum disorder
Health Risk
RS1806539260
Likely pathogenic
Health Risk
RS2537968823
Likely pathogenic
SYNCRIP-associated neurodevelopmental disorder, SYNCRIP-associated neurodevelopmental disorder
Health Risk
All Variants (4)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1805615555 | Health Risk | association | Autism spectrum disorder, Autism spectrum disorder |
| RS1808543772 | Health Risk | association | Autism spectrum disorder, Autism spectrum disorder |
| RS1806539260 | Health Risk | Likely pathogenic | — |
| RS2537968823 | Health Risk | Likely pathogenic | SYNCRIP-associated neurodevelopmental disorder, SYNCRIP-associated neurodevelopmental disorder |