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Protein Coding Gene : Tmtc3 transmembrane and tetratricopeptide repeat containing 3

Primary Identifier  MGI:3036255 Organism  mouse, laboratory
Chromosome  10 NCBI Gene Number  237500
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0)

Predicted to enable dolichyl-phosphate-mannose-protein mannosyltransferase activity. Acts upstream of or within several processes, including lung development; muscle cell development; and post-embryonic development. Predicted to be located in membrane. Predicted to be active in endoplasmic reticulum. Is expressed in several structures, including central nervous system; embryo mesenchyme; genitourinary system; gut; and respiratory system. Human ortholog(s) of this gene implicated in lissencephaly 8. Orthologous to human TMTC3 (transmembrane O-mannosyltransferase targeting cadherins 3).
PHENOTYPE: Mice homozygous for a gene trap allele exhibit impaired bronchial smooth muscle and alveolar myofibroblast development that leads to cyanosis and postnatal lethality in some mice. [provided by MGI curators]
  • synonyms:
  • B130008E12Rik,
  • 9130014E20Rik,
  • mSmile,
  • MGI:1918840,
  • RIKEN cDNA 9130014E20 gene,
  • RIKEN cDNA B130008E12 gene,
  • Tmtc3,
  • transmembrane and tetratricopeptide repeat containing 3

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Genome

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Canonical gene --> CDSs in specific strains.

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Canonical gene --> Transcripts in specific strains.

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