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Protein Coding Gene : Mia3 MIA SH3 domain ER export factor 3
Primary Identifier  MGI:2443183 Organism  mouse, laboratory
Chromosome  1 NCBI Gene Number  338366
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0)

Predicted to enable cargo receptor activity. Acts upstream of or within chondrocyte development; collagen fibril organization; and positive regulation of bone mineralization. Located in endoplasmic reticulum membrane. Is expressed in several structures, including branchial arch; embryo mesenchyme; heart; nervous system; and nose. Orthologous to human MIA3 (MIA SH3 domain ER export factor 3).
PHENOTYPE: Mice homozygous null for the large isoform display complete perinatal lethality with impaired collagen secretion, intracellular collagen aggregates, short limbed dwarfism, and arrest of chondrocyte maturation. [provided by MGI curators]
  • synonyms:
  • LOC385255,
  • MGI:2686371,
  • gene model 1525, (NCBI),
  • Tango,
  • Mia3,
  • C80126,
  • 9130229H14Rik,
  • AU022327,
  • MGI:2138470,
  • RIKEN cDNA 9130229H14 gene,
  • A930039G15Rik,
  • expressed sequence C80126,
  • expressed sequence AU022327,
  • MGI:2138687,
  • RIKEN cDNA A930039G15 gene,
  • Gm1525,
  • MIA SH3 domain ER export factor 3,
  • RIKEN cDNA B230399H06 gene,
  • B230399H06Rik
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