Aliases for PRPS1L1 Gene
External Ids for PRPS1L1 Gene
Previous HGNC Symbols for PRPS1L1 Gene
Previous GeneCards Identifiers for PRPS1L1 Gene
This intronless gene is specifically expressed in the testis, and encodes a protein that is highly homologous to the two subunits of phosphoribosylpyrophosphate synthetase encoded by human X-linked genes, PRPS1 and PRPS2. These enzymes convert pyrimidine, purine or pyridine bases to the corresponding ribonucleoside monophosphates. In vitro transcription/translation and site-directed mutagenesis studies indicate that translation of this mRNA initiates exclusively at a non-AUG (ACG) codon. [provided by RefSeq, Jul 2008]
GeneCards Summary for PRPS1L1 Gene
PRPS1L1 (Phosphoribosyl Pyrophosphate Synthetase 1-Like 1) is a Protein Coding gene. Diseases associated with PRPS1L1 include Charcot-Marie-Tooth Disease, X-Linked Recessive, 5. Among its related pathways are Pentose phosphate pathway and Glycosaminoglycan metabolism. GO annotations related to this gene include protein homodimerization activity and kinase activity. An important paralog of this gene is PRPS1.
UniProtKB/Swiss-Prot for PRPS1L1 Gene
Catalyzes the synthesis of phosphoribosylpyrophosphate (PRPP) that is essential for nucleotide synthesis.