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LIM homeobox transcription factor 1, beta
Identifiers
Symbol LMX1B
Alt. symbols NPS1
Entrez 4010
HUGO 6654
OMIM 602575
RefSeq NM_002316
UniProt O60663
Other data
Locus Chr. 9 q34

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

Contents

Function

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

Clinical signficance

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

References

  1. ^ "Entrez Gene: LMX1B LIM homeobox transcription factor 1, beta". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=4010.  
  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. doi:10.1006/geno.1997.5075. PMID 9441763.  
  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. doi:10.1007/s00429-003-0373-y. PMID 15007643.  
  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. doi:10.1038/ng0598-47. PMID 9590287.  

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