LMX1B

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LMX1B
Identifiers
AliasesLMX1B, LMX1.2, NPS1, LIM homeobox transcription factor 1 beta
External IDsOMIM: 602575 MGI: 1100513 HomoloGene: 55648 GeneCards: LMX1B
Gene location (Human)
Chromosome 9 (human)
Chr.Chromosome 9 (human)[1]
Chromosome 9 (human)
Genomic location for LMX1B
Genomic location for LMX1B
Band9q33.3Start126,614,443 bp[1]
End126,701,032 bp[1]
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

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 MbChr 2: 33.56 – 33.64 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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[edit]

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

Clinical significance[edit]

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

References[edit]

  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[edit]

External links[edit]