Gene: RPL36A-HNRNPH2
Alternate names for this Gene: -
Gene Summary: This locus represents naturally occurring read-through transcription between the neighboring ribosomal protein L36a and heterogeneous nuclear ribonucleoprotein H2 (H') genes on chromosome X. The read-through transcript produces a protein with similarity to the protein encoded by the upstream locus, ribosomal protein L36a. Alternatively spliced transcript variants have been identified.
Gene is located in Chromosome: X
Location in Chromosome : Xq22.1
Description of this Gene: RPL36A-HNRNPH2 readthrough
Type of Gene: protein-coding
Gene: HNRNPH2
Alternate names for this Gene: FTP3|HNRPH'|HNRPH2|MRXSB|NRPH2|hnRNPH'
Gene Summary: This gene belongs to the subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are RNA binding proteins and they complex with heterogeneous nuclear RNA (hnRNA). These proteins are associated with pre-mRNAs in the nucleus and appear to influence pre-mRNA processing and other aspects of mRNA metabolism and transport. While all of the hnRNPs are present in the nucleus some seem to shuttle between the nucleus and the cytoplasm. The hnRNP proteins have distinct nucleic acid binding properties. The protein encoded by this gene has three repeats of quasi-RRM domains that binds to RNAs. It is very similar to the family member HNRPH1. This gene is thought to be involved in Fabray disease and X-linked agammaglobulinemia phenotype. Alternative splicing results in multiple transcript variants encoding the same protein. Read-through transcription between this locus and the ribosomal protein L36a gene has been observed.
Gene is located in Chromosome: X
Location in Chromosome : Xq22.1
Description of this Gene: heterogeneous nuclear ribonucleoprotein H2
Type of Gene: protein-coding
Gene: GLA
Alternate names for this Gene: GALA
Gene Summary: This gene encodes a homodimeric glycoprotein that hydrolyses the terminal alpha-galactosyl moieties from glycolipids and glycoproteins. This enzyme predominantly hydrolyzes ceramide trihexoside, and it can catalyze the hydrolysis of melibiose into galactose and glucose. A variety of mutations in this gene affect the synthesis, processing, and stability of this enzyme, which causes Fabry disease, a rare lysosomal storage disorder that results from a failure to catabolize alpha-D-galactosyl glycolipid moieties.
Gene is located in Chromosome: X
Location in Chromosome : Xq22.1
Description of this Gene: galactosidase alpha
Type of Gene: protein-coding