LP435236-7
PHGDH gene targeted mutation analysis
Active
Description
This gene encodes the enzyme which is involved in the early steps of L-serine synthesis in animal cells. L-serine is required for D-serine and other amino acid synthesis. The enzyme requires NAD/NADH as a cofactor and forms homotetramers for activity. Mutations in this gene have been found in a family with congenital microcephaly, psychomotor retardation and other symptoms. Multiple alternatively spliced transcript variants have been found, however the full-length nature of most are not known. [provided by RefSeq, Aug 2011] Source: 3M Health Information Systems,
Basic Part Properties
- Part Name
- PHGDH gene targeted mutation analysis
- Part Display Name
- PHGDH gene targeted mutation analysis
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2023-04-24
- Construct for LOINC Short Name
- PHGDH Mut Anl
LOINC Terminology Service (API) using HL7® FHIR® Get Info
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- CodeSystem lookup
- https:
//fhir.loinc.org/CodeSystem/$lookup?system=http: //loinc.org&code=LP435236-7
LOINC Copyright
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