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FLASH GENE
Symbol PYCR2 contributors: mct - updated : 12-05-2015
HGNC name pyrroline-5-carboxylate reductase family, member 2
HGNC id 30262
Corresponding disease
MCHM microcephaly and hypomyelination
Location 1q42.12      Physical location : 226.107.580 - 226.111.965
Synonym symbol(s) P5CR2
EC.number 1.5.1.2
DNA
TYPE functioning gene
STRUCTURE 4.46 kb     6 Exon(s)
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
6 - 1549 - 246 - -
7 - 1771 - 320 - -
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Nervousbrain   highly Homo sapiensFetal
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
HOMOLOGY
interspecies ortholog to zebrafish Picr1b
Homologene
FAMILY
CATEGORY enzyme
SUBCELLULAR LOCALIZATION     intracellular
intracellular,cytoplasm,organelle,mitochondria
text
  • localized to mitochondria
  • basic FUNCTION
  • PYCR1 and PYCR2, which are localized in the mitochondria, are primarily involved in conversion of glutamate to proline
  • enzyme in the proline biosynthesis pathway
  • unique and indispensable role for PYCR2 in the CNS during development
  • PYCR1 and PYCR2 could play overlapping, yet non-redundant roles in mitochondrial physiology
  • is essential in maintaining mitochondrial membrane potential
  • is involved in the cell response to oxidative stress
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) MCHM
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS