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Protein Coding Gene : Asph aspartate-beta-hydroxylase
Primary Identifier  MGI:1914186 Organism  mouse, laboratory
Chromosome  4 NCBI Gene Number  65973
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0)

Predicted to enable calcium ion binding activity and peptidyl-aspartic acid 3-dioxygenase activity. Involved in regulation of protein depolymerization and regulation of protein stability. Acts upstream of or within several processes, including face morphogenesis; limb morphogenesis; and peptidyl-aspartic acid hydroxylation. Located in cytoplasm. Is expressed in several structures, including cerebellum; eye; face; heart; and limb. Human ortholog(s) of this gene implicated in cholangiocarcinoma. Orthologous to human ASPH (aspartate beta-hydroxylase).
PHENOTYPE: Homozygotes for a mutation lacking aspartyl beta-hydroxylase expression exhibit syndactyly, facial dysmorphology, mild hard palate defects, and reduced female fertility. [provided by MGI curators]
  • synonyms:
  • calsequestrin-binding protein,
  • jumbug,
  • cDNA sequence, clone 2-5,
  • BAH,
  • RIKEN cDNA 2310005F16 gene,
  • AI848629,
  • EST AI848629,
  • aspartate-beta-hydroxylase,
  • cI-37,
  • AW261690,
  • MGI:2140566,
  • MGI:1930795,
  • MGI:1917495,
  • AW561901,
  • 3110001L23Rik,
  • MGI:2135556,
  • expressed sequence AW261690,
  • Asph,
  • junctate,
  • aspartyl beta-hydroxylase,
  • Junctin,
  • 2310005F16Rik,
  • RIKEN cDNA 3110001L23 gene
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