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Open Access Articles- Top Results for LMX1B

LMX1B

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Identifiers
SymbolsLMX1B ; LMX1.2; NPS1
External IDsOMIM602575 MGI1100513 HomoloGene55648 GeneCards: LMX1B Gene
Orthologs
SpeciesHumanMouse
Entrez401016917
EnsemblENSG00000136944ENSMUSG00000038765
UniProtO60663O88609
RefSeq (mRNA)NM_001174146NM_010725
RefSeq (protein)NP_001167617NP_034855
Location (UCSC)Chr 9:
129.38 – 129.46 Mb
Chr 2:
33.56 – 33.64 Mb
PubMed search[1][2]

LIM homeobox transcription factor 1-beta, also known as LMX1B, is a protein which in humans is encoded by the LMX1B gene.[1][2]

Function

LMX1B is a LIM homeobox transcription factor which plays a central role in dorso-ventral patterning of the vertebrate limb.[3]

Clinical significance

Mutations in the LMX1B gene are associated with the Nail-patella syndrome.[4]

References

  1. ^ "Entrez Gene: LMX1B LIM homeobox transcription factor 1, beta". 
  2. ^ Iannotti CA, Inoue H, Bernal E, Aoki M, Liu L, Donis-Keller H, German MS, Permutt MA (December 1997). "Identification of a human LMX1 (LMX1.1)-related gene, LMX1.2: tissue-specific expression and linkage mapping on chromosome 9". Genomics 46 (3): 520–4. PMID 9441763. doi:10.1006/geno.1997.5075. 
  3. ^ Schweizer H, Johnson RL, Brand-Saberi B (April 2004). "Characterization of migration behavior of myogenic precursor cells in the limb bud with respect to Lmx1b expression". Anat. Embryol. 208 (1): 7–18. PMID 15007643. doi:10.1007/s00429-003-0373-y. 
  4. ^ Dreyer SD, Zhou G, Baldini A, Winterpacht A, Zabel B, Cole W, Johnson RL, Lee B (May 1998). "Mutations in LMX1B cause abnormal skeletal patterning and renal dysplasia in nail patella syndrome". Nat. Genet. 19 (1): 47–50. PMID 9590287. doi:10.1038/ng0598-47. 

Further reading

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External links


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