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Protein Coding Gene : Dhcr7 7-dehydrocholesterol reductase

Primary Identifier  MGI:1298378 Organism  Mus musculus
Chromosome  7 NCBI Gene Number  13360
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources

Exhibits 7-dehydrocholesterol reductase activity. Involved in several processes, including growth; lung development; and sterol biosynthetic process. Predicted to localize to the cytosol; integral component of endoplasmic reticulum membrane; and nuclear outer membrane. Used to study Smith-Lemli-Opitz syndrome. Human ortholog(s) of this gene implicated in Smith-Lemli-Opitz syndrome. Orthologous to human DHCR7 (7-dehydrocholesterol reductase).
PHENOTYPE: Mice homozygous for disruptions in this gene die within one day of birth due to respiratory and suckling problems. They exhibit abnormal cholesterol homeostasis with reduced tissue cholesterol levels and total sterol levels, enlarged bladders and sometimes cleft palate. [provided by MGI curators]
  • synonyms:
  • 7-dehydrocholesterol reductase,
  • expressed sequence AA409147,
  • MGI:2141819,
  • Dhcr7,
  • AA409147

Features --> Cross References

Genome

Sequence Feature Displayer

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0 Canonical

0 CDSs

0 Exons

0 Genomic Clusters

0 Involved In Mutations

0 Strain

0 Transcripts

1 Transgenic Expressors

0 UTRs

Canonical gene --> CDSs in specific strains.

Canonical gene --> Exons in specific strains

Canonical gene --> Strain-specific IDs, biotypes, and locations

Canonical gene --> Transcripts in specific strains.

Features --> Overlapping features

Proteins

Gene --> Proteins

Function

Mouse features --> Functions (GO terms)

Homology

Genes --> Homologs

Interactions

6 Pathways

117 Targeted By

Gene --> Protein-Protein Interactions

Expression

Gene --> Expression annotations

Phenotype

Genes/Features --> Phenotypes (MP terms)

Mouse features --> Alleles

Disease

Mouse features --> Human diseases

Literature

Mouse features --> Publications