Gene: RBM8A

Alternate names for this Gene: BOV-1A|BOV-1B|BOV-1C|C1DELq21.1|DEL1q21.1|MDS014|RBM8|RBM8B|TAR|Y14|ZNRP|ZRNP1

Gene Summary: This gene encodes a protein with a conserved RNA-binding motif. The protein is found predominantly in the nucleus, although it is also present in the cytoplasm. It is preferentially associated with mRNAs produced by splicing, including both nuclear mRNAs and newly exported cytoplasmic mRNAs. It is thought that the protein remains associated with spliced mRNAs as a tag to indicate where introns had been present, thus coupling pre- and post-mRNA splicing events. Previously, it was thought that two genes encode this protein, RBM8A and RBM8B; it is now thought that the RBM8B locus is a pseudogene. There are two alternate translation start codons with this gene, which result in two forms of the protein. An allele mutation and a low-frequency noncoding single-nucleotide polymorphism (SNP) in this gene cause thrombocytopenia-absent radius (TAR) syndrome.

Gene is located in Chromosome: 1

Location in Chromosome : 1q21.1

Description of this Gene: RNA binding motif protein 8A

Type of Gene: protein-coding

Gene: LIX1L-AS1

Alternate names for this Gene: -

Gene Summary:

Gene is located in Chromosome: 1

Location in Chromosome : 1q21.1

Description of this Gene: LIX1L antisense RNA 1

Type of Gene: ncRNA

rs139428292 in RBM8A;LIX1L-AS1 gene and Thrombocytopenia-Absent Radius Syndrome PMID 22366785 2012 Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome.

PMID 24053387 2013 Prenatal diagnosis and post-mortem examination in a fetus with thrombocytopenia-absent radius (TAR) syndrome due to compound heterozygosity for a 1q21.1 microdeletion and a RBM8A hypomorphic allele: a case report.

PMID 28857120 2017 Impact of genetic variants on haematopoiesis in patients with thrombocytopenia absent radii (TAR) syndrome.

rs139428292 in RBM8A;LIX1L-AS1 gene and Uric acid measurement (procedure) PMID 31578528 2019 Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels.