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Protein Coding Gene : Kcnj13 potassium inwardly-rectifying channel, subfamily J, member 13

Primary Identifier  MGI:3781032 Organism  mouse, laboratory
Chromosome  1 NCBI Gene Number  100040591
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0)

Predicted to enable inward rectifier potassium channel activity. Predicted to be involved in potassium ion import across plasma membrane and regulation of monoatomic ion transmembrane transport. Predicted to be part of monoatomic ion channel complex. Predicted to be active in plasma membrane. Is expressed in brain; male reproductive gland or organ; metanephros; and respiratory system. Human ortholog(s) of this gene implicated in Leber congenital amaurosis 16 and snowflake vitreoretinal degeneration. Orthologous to human KCNJ13 (potassium inwardly rectifying channel subfamily J member 13).
PHENOTYPE: Homozygous mutant null mice die shortly after birth, exhibit cleft palate and pulmonary abnormalities in embryonic lungs. [provided by MGI curators]
  • synonyms:
  • potassium inwardly-rectifying channel, subfamily J, member 13,
  • Kcnj13,
  • predicted gene, 100040591,
  • 100040591

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2 Involved In Mutations

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