QuickView for Lmx1b (gene)

Gene Symbol:

LMX1B Homo sapiens

Full name:

LIM homeobox transcription factor 1 beta

Synonyms:

LMX1.2, NPS1, LIM homeobox transcription factor 1-beta, LIM/homeobox protein 1.2, LMX-1.2

Genomic Location:

Chr 9: 128416619-128498551

Description:

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, ...

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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.

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Orthologs:

Mus musculus ,  Rattus norvegicus ,  D. melanogaster ,  C. elegans ,  Macaca mulatta ,  Gallus gallus ,  Canis lupus familiaris ,  Bos taurus ,  Danio rerio ,  Pan troglodytes

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

HNF4ALPHA_Q6 ,  ATF6_01 ,  RYTTCCTG_ETS2_B ,  COUP_01 ,  HNF4_01 ,  GGGYGTGNY_UNKNOWN ,  DR1_Q3 ,  GGGCGGR_SP1_Q6 ,  YKACATTT_UNKNOWN ,  E2F1_Q3_01 ,  WCAANNNYCAG_UNKNOWN ,  TGACATY_UNKNOWN ,  GGGTGGRR_PAX4_03

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Cytogenetic Map:

9q33.3

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