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FAM136A

From Wikipedia, the free encyclopedia

FAM136A
Identifiers
AliasesFAM136A, family with sequence similarity 136 member A
External IDsOMIM: 616275; MGI: 1913738; GeneCards: FAM136A
Orthologs
DatabasesNCBI: entry; OMA: entry
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_025591
NM_001368363

RefSeq (protein)

NP_079867
NP_001355292

Location (UCSC)Chr 2: 70.3 – 70.3 MbChr 6: 86.34 – 86.35 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Protein FAM136A is a protein that in humans is encoded by the FAM136A gene[5]

Clinical significance

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Mutations in FAM136A are associated to Ménière's disease.[6][7]

References

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  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000035141 – Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000057497 – Ensembl, May 2017
  3. ↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ↑ "Entrez Gene: FLJ14668 hypothetical protein FLJ14668".
  6. ↑ Lopez-Escamez JA, Carey J, Chung WH, Goebel JA, Magnusson M, Mandalà M, et al. (2015). "Diagnostic criteria for Menière's disease". Journal of Vestibular Research. 25 (1): 1–7. doi:10.3233/VES-150549. PMID 25882471.
  7. ↑ Requena T, Cabrera S, Martín-Sierra C, Price SD, Lysakowski A, Lopez-Escamez JA (February 2015). "Identification of two novel mutations in FAM136A and DTNA genes in autosomal-dominant familial Meniere's disease". Human Molecular Genetics. 24 (4): 1119–1126. doi:10.1093/hmg/ddu524. PMC 4834881. PMID 25305078.

Further reading

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