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Protein Coding Gene : Pnpla6 patatin-like phospholipase domain containing 6

Primary Identifier  MGI:1354723 Organism  mouse, laboratory
Chromosome  8 NCBI Gene Number  50767
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0)

Enables lysophospholipase activity. Acts upstream of or within angiogenesis and animal organ morphogenesis. Located in membrane. Is expressed in several structures, including brain; cranial nerve; epithelium; extraembryonic component; and genitourinary system. Human ortholog(s) of this gene implicated in Boucher-Neuhauser syndrome; Laurence-Moon syndrome; Oliver-McFarlane syndrome; and hereditary spastic paraplegia 39. Orthologous to human PNPLA6 (patatin like phospholipase domain containing 6).
PHENOTYPE: Homozygous mutation of this gene results in embryonic lethality during early gestation. Conditional inactivation in the central nervous system leads to neurodegeneration. [provided by MGI curators]
  • synonyms:
  • Pnpla6,
  • patatin-like phospholipase domain containing 6,
  • MGI:2142609,
  • expressed sequence AI661849,
  • AI661849,
  • Nte,
  • MSws,
  • Swiss-cheese,
  • neuropathy target esterase

Features --> Cross References

Genome

Sequence Feature Displayer

JG Browse Displayer

0 Canonical

0 CDSs

0 Exons

0 Genomic Clusters

0 Involved In Mutations

0 Strain

0 Transcripts

0 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

5 Pathways

0 Targeted By

Gene --> Protein-Protein Interactions

Expression

Gene --> Expression annotations

Phenotype

Genes/Features --> Phenotypes (MP terms)

Disease

Mouse features --> Human diseases

Literature

Mouse features --> Publications

 

Other

0 Driver For