Entity Details

Primary name MPZL2
Entity type gene
Source Source Link

Details

PrimaryID10205
RefseqGene
SymbolMPZL2
Namemyelin protein zero like 2
Chromosome11
Location11q23.3
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1999-11-19
ModificationDate2021-06-22

Ontological Relatives

UniProt IDsMPZL2_HUMAN

GO terms

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GOName
GO:0005856 cytoskeleton
GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules
GO:0009653 anatomical structure morphogenesis
GO:0016021 integral component of membrane

Diseases

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Disease IDSourceNameDescription
618145 OMIMDeafness, autosomal recessive, 111 (DFNB111)A form of non-syndromic, sensorineural deafness characterized by early-onset, moderate to severe hearing loss with no vestibular involvement. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. The disease is caused by variants affecting the gene represented in this entry.

Interactions

11 interactions