Otogelin-Like Protein

Alternative Names

  • OTOGL
  • Chromosome 12 Open Reading Frame 64
  • C12ORF64
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OMIM Number

614925

NCBI Gene ID

283310

Uniprot ID

Q3ZCN5

Length

281,343 bases

No. of Exons

68

No. of isoforms

1

Protein Name

Otogelin-Like Protein

Molecular Mass

262091 Da

Amino Acid Count

2332

Genomic Location

chr12:80,099,537-80,380,879

Gene Map Locus
12q21.31

Description

The OTOGL gene expresses a protein with alpha-L-arabinofuranosidase activity. While the protein is yet to be fully characterised, it is expressed in the inner ear and is believed to play a role in inner ear function. Mutations in the gene are associated with DFNB84B, an autosomal recessive condition characterised by congenital nonprogressive sensorineural hearing loss. 

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_173591.3:c.2773C>TSyriachr12:80279038PathogenicDeafness, Autosomal Recessive 84BNG_033008.1:g.74586C>T; NM_173591.3:c.2773C>T; NP_775862.3:p.Arg925Ter757774496
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