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PGK1 phosphoglycerate kinase 1

Gene ID: 5230, updated on 17-Oct-2021
Gene type: protein coding
Also known as: PGKA; MIG10; HEL-S-68p

Summary

The protein encoded by this gene is a glycolytic enzyme that catalyzes the conversion of 1,3-diphosphoglycerate to 3-phosphoglycerate. The encoded protein may also act as a cofactor for polymerase alpha. Additionally, this protein is secreted by tumor cells where it participates in angiogenesis by functioning to reduce disulfide bonds in the serine protease, plasmin, which consequently leads to the release of the tumor blood vessel inhibitor angiostatin. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. Deficiency of the enzyme is associated with a wide range of clinical phenotypes hemolytic anemia and neurological impairment. Pseudogenes of this gene have been defined on chromosomes 19, 21 and the X chromosome. [provided by RefSeq, Jan 2014]

Associated conditions

See all available tests in GTR for this gene

DescriptionTests
Phosphoglycerate kinase 1 deficiency
MedGen: C1970848OMIM: 300653GeneReviews: Not available
See labs

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated 2021-05-26)

ClinGen Genome Curation Page
Haploinsufficency

Some evidence for dosage pathogenicity (Last evaluated 2021-05-26)

ClinGen Genome Curation PagePubMed

Genomic context

Location:
Xq21.1
Sequence:
Chromosome: X; NC_000023.11 (78104248..78129295)
Total number of exons:
11

Links

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