C203322Level 5
CTPS1 wt Allele
**Semantic type:** Gene or Genome
**Definition:** Human CTPS1 wild-type allele is located in the vicinity of 1p34.2 and is approximately 33 kb in length. This allele, which encodes CTP synthase 1 protein, plays a role in the synthesis of cytidine triphosphate, which is a precursor for phospholipids and nucleic acids. Mutation of the gene is associated with immunodeficiency 24.
**Synonyms:** - CTP Synthase 1 wt Allele - CTP Synthase Gene - CTP Synthetase Gene - CTPS - Cytidine 5'-Triphosphate Synthetase Gene - Cytidine 5-Prime Triphosphate Synthetase 1 Gene - Cytidine 5-Prime Triphosphate Synthetase Gene - GATD5 - GATD5A - IMD24
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