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NM_002316
NM_001174146
NM_001174147

NM_010725

RefSeq (protein)

NP_001167617
NP_001167618
NP_002307

NP_034855

Location (UCSC) Chr 9: 126.61 – 126.7 Mb Chr 2: 33.56 – 33.64 Mb PubMed search [3] [4] Wikidata
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LIM homeobox transcription factor 1-beta, also known as LMX1B, is a protein which in humans is encoded by the LMX1B gene.[5][6]

Function

LMX1B is a LIM homeobox transcription factor which plays a central role in dorso-ventral patterning of the vertebrate limb.[7]

Clinical significance

Mutations in the LMX1B gene are associated with the Nail-patella syndrome.[8]

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000136944 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000038765 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". 
  4. ^ "Mouse PubMed Reference:". 
  5. ^ "Entrez Gene: LMX1B LIM homeobox transcription factor 1, beta". 
  6. ^ 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. 
  7. ^ 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. 
  8. ^ 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. 

Further reading

External links