FRMD7

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FRMD7
Identifiers
AliasesFRMD7, NYS, NYS1, XIPAN, FERM domain containing 7
External IDsOMIM: 300628 MGI: 2686379 HomoloGene: 18855 GeneCards: FRMD7
Gene location (Human)
X chromosome (human)
Chr.X chromosome (human)[1]
X chromosome (human)
Genomic location for FRMD7
Genomic location for FRMD7
BandXq26.2Start132,076,993 bp[1]
End132,128,020 bp[1]
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001306193
NM_194277

NM_001190332

RefSeq (protein)

NP_001293122
NP_919253

NP_001177261

Location (UCSC)Chr X: 132.08 – 132.13 MbChr X: 50.9 – 50.94 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

FERM domain-containing protein 7 is a protein that in humans is encoded by the FRMD7 gene.[5][6][7]


References[edit]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000165694 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000036131 - 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. ^ Gutmann DH, Brooks ML, Emanuel BS, McDonald-McGinn DM, Zackai EH (Aug 1991). "Congenital nystagmus in a (46,XX/45,X) mosaic woman from a family with X-linked congenital nystagmus". Am J Med Genet. 39 (2): 167–9. doi:10.1002/ajmg.1320390210. PMID 2063919.
  6. ^ Tarpey P, Thomas S, Sarvananthan N, Mallya U, Lisgo S, Talbot CJ, Roberts EO, Awan M, Surendran M, McLean RJ, Reinecke RD, Langmann A, Lindner S, Koch M, Jain S, Woodruff G, Gale RP, Degg C, Droutsas K, Asproudis I, Zubcov AA, Pieh C, Veal CD, Machado RD, Backhouse OC, Baumber L, Constantinescu CS, Brodsky MC, Hunter DG, Hertle RW, Read RJ, Edkins S, O'Meara S, Parker A, Stevens C, Teague J, Wooster R, Futreal PA, Trembath RC, Stratton MR, Raymond FL, Gottlob I (Oct 2006). "Mutations in a novel member of the FERM family, FRMD7 cause X-linked idiopathic congenital nystagmus (NYS1)". Nat Genet. 38 (11): 1242–4. doi:10.1038/ng1893. PMC 2592600. PMID 17013395.
  7. ^ "Entrez Gene: FRMD7 FERM domain containing 7".

External links[edit]

Further reading[edit]