LMX1B

GENE INFORMATION

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Gene name

LMX1B (HGNC Symbol)

Synonyms

NPS1

Description

LIM homeobox transcription factor 1, beta (HGNC Symbol)

Entrez gene summary

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]

Chromosome

9

Cytoband

q33.3

Chromosome location (bp)

126614443 - 126701032

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000136944 (version 78.38)

Entrez gene

4010

UniProt

O60663 (UniProt - Evidence at protein level)

neXtProt

NX_O60663

Antibodypedia

LMX1B antibodies
 

PROTEIN VIEW

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LMX1B-001
 
LMX1B-002
 
LMX1B-003
 
LMX1B-201
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

LMX1B-001 ENSP00000436930
ENST00000526117
O60663
Show all »
Show » Show » 395 44.1 No 0
LMX1B-002 ENSP00000362573
ENST00000373474
O60663
Show all »
Show » Show » 402 44.9 No 0
LMX1B-003 ENSP00000453580
ENST00000561065
B7ZLH2
Show all »
Show » Show » 383 42.6 No 0
LMX1B-201 ENSP00000347684
ENST00000355497
O60663
Show all »
Show » Show » 406 45.1 No 0