PNP
- Aliases
-
- FLJ94043
- FLJ97288
- FLJ97312
- MGC117396
- MGC125915
- MGC125916
- NP
- PNP
- PRO1837
- PUNP
- nucleoside phosphorylase
- purine nucleoside phosphorylase
- Description
- From NCBI Gene: This gene encodes an enzyme which reversibly catalyzes the phosphorolysis of purine nucleosides. The enzyme is trimeric, containing three identical subunits. Mutations which result in nucleoside phosphorylase deficiency result in defective T-cell (cell-mediated) immunity but can also affect B-cell immunity and antibody responses. Neurologic disorders may also be apparent in patients with immune defects. A known polymorphism at aa position 51 that does not affect enzyme activity has been described. A pseudogene has been identified on chromosome 2. [provided by RefSeq, Jul 2008]
Attributes
- QA State
- Under Review
- Type
- Protein
- HGNC Name
- PNP
- Certifications
-
- None
- QA State for Ovary
- Under Review
Non-Public Biomarker
Organ-specific information for this biomarker is currently being annotated or is "under review". Logging in may give you privileges to view additional information. Contact the Informatics Center if you believe you should have access.
Non-Public Biomarker
Organ-specific information for this biomarker is currently being annotated or is "under review". Logging in may give you privileges to view additional information. Contact the Informatics Center if you believe you should have access.
Non-Public Biomarker
Organ-specific information for this biomarker is currently being annotated or is "under review". Logging in may give you privileges to view additional information. Contact the Informatics Center if you believe you should have access.
Non-Public Biomarker
Organ-specific information for this biomarker is currently being annotated or is "under review". Logging in may give you privileges to view additional information. Contact the Informatics Center if you believe you should have access.
Non-Public Biomarker
Organ-specific information for this biomarker is currently being annotated or is "under review". Logging in may give you privileges to view additional information. Contact the Informatics Center if you believe you should have access.