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Protein Coding Gene : Cert1 ceramide transporter 1

Primary Identifier  MGI:1915268 Organism  mouse, laboratory
Chromosome  13 NCBI Gene Number  68018
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0)

Enables kinase activity. Involved in ER to Golgi ceramide transport. Acts upstream of or within several processes, including ceramide metabolic process; in utero embryonic development; and lipid homeostasis. Located in cytosol and mitochondrion. Is expressed in several structures, including alimentary system; eye; nervous system; respiratory system; and urinary system. Human ortholog(s) of this gene implicated in autosomal dominant intellectual developmental disorder 34. Orthologous to human CERT1 (ceramide transporter 1).
PHENOTYPE: Homozygous mice display embryonic lethality during organogenesis with reduced embryo size, impaired heart function, abnormal heart morphology, abnormal mitochondrial morphology and physiology, abnormal endoplasmic reticulum morphology, and decreased cell proliferation. [provided by MGI curators]
  • synonyms:
  • Col4a3bp,
  • GPBP,
  • AU016711,
  • RIKEN cDNA 9230101K08 gene,
  • ceramide transport protein,
  • Cert,
  • MGI:2145338,
  • Cert1,
  • 9230101K08Rik,
  • MGI:1924931,
  • RIKEN cDNA 2810404O15 gene,
  • collagen, type IV, alpha 3 (Goodpasture antigen) binding protein,
  • expressed sequence AU016711,
  • ceramide transporter 1,
  • MGI:6393845,
  • 2810404O15Rik

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