LMX1B

Protein-coding gene in the species Homo sapiens From Wikipedia, the free encyclopedia

LIM homeobox transcription factor 1-beta, also known as LMX1B, is a protein which in humans is encoded by the LMX1B gene.[5][6]

AliasesLMX1B, LMX1.2, NPS1, LIM homeobox transcription factor 1 beta, FSGS10
End126,701,032 bp[1]
Quick facts Identifiers, Aliases ...
LMX1B
Identifiers
AliasesLMX1B, LMX1.2, NPS1, LIM homeobox transcription factor 1 beta, FSGS10
External IDsOMIM: 602575; MGI: 1100513; HomoloGene: 55648; GeneCards: LMX1B; OMA:LMX1B - orthologs
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: 33.45 – 33.53 Mb
PubMed search[3][4]
Wikidata
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Function

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

Clinical significance

Loss-of-function mutations in the LMX1B gene are associated with Nail-patella syndrome.[8]

References

Further reading

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