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Protein Coding Gene : P4ha1 procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha 1 polypeptide
Primary Identifier  MGI:97463 Organism  mouse, laboratory
Chromosome  10 NCBI Gene Number  18451
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0)

Enables procollagen-proline 4-dioxygenase activity. Acts upstream of or within collagen fibril organization and peptidyl-proline hydroxylation to 4-hydroxy-L-proline. Part of procollagen-proline 4-dioxygenase complex. Is expressed in several structures, including genitourinary system; jaw; limb; sensory organ; and skeleton. Orthologous to human P4HA1 (prolyl 4-hydroxylase subunit alpha 1).
PHENOTYPE: Mice homozygous for a null mutation display embryonic lethality during organogenesis, capillary ruptures, and impaired basement membrane formation. [provided by MGI curators]
  • synonyms:
  • expressed sequence AL022634,
  • MGI:2143707,
  • P4ha1,
  • P4ha,
  • procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha 1 polypeptide,
  • AL022634,
  • MGD-MRK-13113,
  • prolyl 4-hydroxylase, alpha polypeptide
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2 Involved In Mutations

Trail: ProteinCodingGene

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Canonical gene --> CDSs in specific strains.

Canonical gene --> Exons in specific strains

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Canonical gene --> Transcripts in specific strains.

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Function

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3 Pathways

Trail: ProteinCodingGene

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Expression

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Phenotype

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