Gene
LMX1B
LIM homeobox transcription factor 1 beta
- HGNC 6654↗(opens in a new tab)
- Ensembl gene ENSG00000136944↗(opens in a new tab)
- NCBI Gene 4010↗(opens in a new tab)
Summary
- Cytogenetic location
- 9q33.3
- Coordinates
- Chromosome 9: 126,613,928–126,701,032 (GRCh38)
- Exons
- 8 exons across 87.1 kb
- Protein
- 402 amino acids
- Previous symbols
- NPS1
- MANE Select transcript
- ENST00000373474.9NM_001174147.2
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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No Genome Test report reads LMX1B yet. The test sequences your whole genome, so your data includes it all the same.
How LMX1B is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 6.3 kb of the gene's 87.1 kb; 1,209 of those bases code for the protein.
How a genome test reads LMX1B
39
positions in LMX1B where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
A whole genome covers all 87.1 kb of LMX1B, introns included, not only the 6.3 kb of exons.
Traits linked to LMX1B
The Human Phenotype Ontology lists these as features of the rare conditions LMX1B can cause. Each trait's page lists the other genes linked to it.
Abnormality of limbs
- Abnormality of fingers or toes
- Absent distal interphalangeal creases
- Dislocated kneecap
- Abnormality of the elbow
- Abnormality of the knee
- Bilateral coxa valga
- Club feet
- Dropped arches
Show 28 more traits
- Elbow flexion contracture
- Equinovarus deformity
- Fixed elbow flexion
- Limited elbow extension
- Small kneecap
- Abnormal kneecap
- Abnormality of the shankbone
- Abnormality of the thighbone
- Absent kneecap
- Contracture of the distal interphalangeal joint of the fingers
- Curvature of little finger
- Dislocated radial head
- Inability to straighten knee
- Knee joint over-flexibility
- Limited pronation/supination of forearm
- Outward turned elbows
- Proximal finger joint hyperextensibility
- Shortening of the achilles tendon
- Single transverse palmar crease
- Talipes calcaneovalgus
- Talipes calcaneovarus
- Talipes equinovalgus
- Absent biceps
- Absent quads
- Absent triceps
- Disproportionate prominence of the femoral medial condyle
- Elongated radius
- Hypoplastic radial head
Abnormality of head or neck
- Abnormal shape of the opening between the eyelids
- Broad chin
- Bulbous nose
- Decreased volume of lip
- Full cheeks
- Large forehead
- Round face
- Abnormally small head
Show 16 more traits
Abnormality of the integument
- Abnormality of the nail
- Atypical nail growth
- Abnormal fingernail development
- Abnormal hair pattern
- Abnormal toenail development
- Antecubital pterygium
- Absent nails
- Grooved nails
Show 1 more trait
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). LMX1B gene: LIM homeobox transcription factor 1 beta. Retrieved 17 October 2026, from https://dantelabs.com/genes/lmx1b
Dante Labs. LMX1B gene: LIM homeobox transcription factor 1 beta [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/lmx1b
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