ZRSR2 Chromosome X

Zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2
1 variant 1 Health Risk

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What This Gene Does
This gene encodes an essential splicing factor. The encoded protein associates with the U2 auxiliary factor heterodimer, which is required for the recognition of a functional 3' splice site in pre-mRNA splicing, and may play a role in network interactions during spliceosome assembly. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Zinc fingers CCCH-type|RNA binding motif containing|U11/U12 di-snRNP"
Locus Type
gene with protein product
Location
Xp22.2
Ensembl
ENSG00000169249
Associated Conditions (6)
Severe hydrocephalus
Median cleft lip and palate
Holoprosencephaly sequence
Heart
malformation of
Orofaciodigital syndrome 21
Key Variants
RS1933151965
Likely pathogenic
Severe hydrocephalus, Median cleft lip and palate, Holoprosencephaly sequence
Health Risk
All Variants (1)
RSID Category Clinical Significance Conditions
RS1933151965 Health Risk Likely pathogenic Severe hydrocephalus, Median cleft lip and palate, Holoprosencephaly sequence
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