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Gene : PHYKPL Homo sapiens

Name  ? 5-phosphohydroxy-L-lysine phospho-lyase Cytological Location  5q35.3
Brief Description  5-phosphohydroxy-L-lysine phospho-lyase
description  This is a nuclear gene encoding a mitochondrial enzyme that catalyzes the conversion of 5-phosphonooxy-L-lysine to ammonia, inorganic phosphate, and 2-aminoadipate semialdehyde. Mutations in this gene may cause phosphohydroxylysinuria. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]
  • synonyms:
  • MGC15875,
  • HGNC:28249,
  • AGXT2L2,
  • PHYKPL,
  • alanine-glyoxylate aminotransferase 2-like 2,
  • NM_032921,
  • OTTHUMG00000130892,
  • BC037567,
  • 5-phosphonooxy-L-lysine phospho-lyase,
  • AGXT2L2,
  • PHLU
  • identifiers:
  • 85007,
  • ENSG00000175309,
  • PHYKPL

Genome feature

Region: gene ? Length: 25679  
Location: 5:178207144-178232822 reverse strand Cyto location: 5q35.3


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Function

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Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

1 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Homology

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Interactions

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Expression

Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

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Other

331 SN Ps

5 Cross References

16 Data Sets

7 Homologues

0 Located Features

90 Rna Seq Results