LMX1B
Sign in to saveAlso known as LMX1.2, NPS1, LIM homeobox transcription factor 1 beta, FSGS10
LIM homeobox transcription factor 1-beta, also known as LMX1B, is a protein which in humans is encoded by the LMX1B gene.
Gene data
LMX1B- Name
- LIM homeobox transcription factor 1 beta
- Type
- protein-coding
- Position
- 126,613,923–126,701,032 (+)
- Aliases
- FSGS10, LMX1.2, NPS1
- Ensembl
- ENSG00000136944
- RefSeq RNA
- NM_001174146.2, NM_001174147.2, NM_002316.4
- RefSeq protein
- NP_001167617.1, NP_001167618.1, NP_002307.2
This gene encodes a member of LIM-homeodomain family of proteins containing two N-terminal zinc-binding LIM domains, 1 homeodomain, and a C-terminal glutamine-rich domain. It functions as a transcription factor, and is essential for the normal development of dorsal limb structures, the glomerular basement membrane, the anterior segment of the eye, and dopaminergic and serotonergic neurons. Mutations in this gene are associated with nail-patella syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010].
Gene Ontology
Biological process
Molecular function
Pathways
via MyGene.info
Gene · Ensembl
LIM homeobox transcription factor 1 beta
- Symbol
- LMX1B
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 9:126,613,923-126,701,032
- Strand
- Forward (+)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Wikidata facts
- Instance of
- gene
Show 9 more facts
- HomoloGene ID
- 55648
- found in taxon
- Homo sapiens
- exact match
- identifiers.org/ncbigene/4010
- genomic end
- 129463311
- genomic start
- 126613928
- chromosome
- human chromosome 9
- cytogenetic location
- 9q33.3
- genetic association
- autism
- expressed in
- substantia nigra
Sources (3)
via Wikidata · CC0
~1 min read
Encyclopedic overview
5 sectionsContents
- Function
- Clinical significance
- References
- Further reading
- External links
LIM homeobox transcription factor 1-beta, also known as LMX1B, is a protein which in humans is encoded by the LMX1B gene.
== Function ==
Excerpted from Wikipedia’s “LMX1B” article, available under the CC BY-SA 4.0 licence.