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Loxhd1 Gene Detail
Summary
  • Symbol
    Loxhd1
  • Name
    lipoxygenase homology domains 1
  • Synonyms
    1700096C21Rik, sba
  • Feature Type
    protein coding gene
  • IDs
    MGI:1914609
    NCBI Gene: 240411
  • Gene Overview
    MyGene.info: LOXHD1
Location & Maps
more
  • Sequence Map
    Chr18:77307750-77442341 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      134592 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 18, 52.20 cM
  • Mapping Data
    1 experiment
Homology
more
  • Human Ortholog
    LOXHD1, lipoxygenase homology domains 1
  • Human Ortholog
    LOXHD1, lipoxygenase homology domains 1
    Orthology source: HGNC
  • Synonyms
    DFNB77, LH2D1
  • Links
    NCBI Gene ID: 125336
    neXtProt AC: NX_Q8IVV2

  • Chr Location
    18q21.1; chr18:46476961-46657114 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with human LOXHD1 associations

Human Disease Mouse Models
       Deafness, Autosomal Recessive 77; DFNB77   OMIM: 613079
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    8 phenotypes from 3 alleles in 2 genetic backgrounds
    5 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    4
  • Chemically induced (ENU)
    3
  • Transposon induced
    1
  • Genomic Mutations
    1 involving Loxhd1
  • Incidental Mutations
Mice honozygous for an ENU-induced mutation exhibit hearing loss associated with hair cell and spiral ganglion degeneration.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
less
  • cDNA Data
Interactions
less
Sequences &
Gene Models
less
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000025866 VEGA Gene Model | MGI Sequence Detail 134592 C57BL/6J ±  kb
transcript OTTMUST00000063742 VEGA | MGI Sequence Detail 4680 Not Applicable  
polypeptide OTTMUSP00000031564 VEGA | MGI Sequence Detail 1478 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    986 from dbSNP Build 142
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 4
    cDNA 4
Other
Accession IDs
less
MGI:3708146
References
more
  • Summaries
    All 20
    Gene Ontology 4
    Phenotypes 5
  • Earliest
    J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
  • Latest
    J:234901 Potter PK, et al., Novel gene function revealed by mouse mutagenesis screens for models of age-related disease. Nat Commun. 2016;7:12444

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
11/22/2016
MGI 6.06
The Jackson Laboratory