Gene
LMBR1
limb development membrane protein 1
- HGNC 13243↗(opens in a new tab)
- Ensembl gene ENSG00000105983↗(opens in a new tab)
- NCBI Gene 64327↗(opens in a new tab)
Summary
- Cytogenetic location
- 7q36.3
- Coordinates
- Chromosome 7: 156,677,791–156,893,183 (GRCh38)
- Exons
- 17 exons across 215.4 kb
- Protein
- 490 amino acids
- Also known as
- ACHP, FLJ11665, ZRS
- Previous symbols
- C7orf2
- MANE Select transcript
- ENST00000353442.10NM_022458.4
- 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 LMBR1 yet. The test sequences your whole genome, so your data includes it all the same.
How LMBR1 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- 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 8 kb of the gene's 215.4 kb; 1,473 of those bases code for the protein.
How a genome test reads LMBR1
3
positions in LMBR1 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 215.4 kb of LMBR1, introns included, not only the 8 kb of exons.
Traits linked to LMBR1
The Human Phenotype Ontology lists these as features of the rare conditions LMBR1 can cause. Each trait's page lists the other genes linked to it.
Abnormality of limbs
- Aplasia/Hypoplasia of the radius
- Abnormal scaphoid morphology
- Abnormal shape of long bones of hand
- Abnormal trapezium morphology
- Abnormality of the calf bone
- Abnormality of the thumb
- Abnormality of the wide portion of a long bone
- Absent 1st long bone of hand
Show 48 more traits
- Absent ankle bone
- Absent calf bone
- Absent finger bone of the hand
- Absent forearm
- Absent hand
- Absent kneecap
- Absent long bone of foot
- Absent long bone of hand
- Absent toe
- Absent wrist bone
- Absent/small shankbone
- Absent/small thumb
- Aplasia of the ulna
- Displaced hand or fingers of the hand
- Extra finger
- Extra thumb
- Finger syndactyly
- Finger-like thumb
- Fused ankle bones
- Fused toes
- Lower limb peromelia
- Mirror image polydactyly
- Missing outer large bone of forearm
- Permanent flexion of the finger
- Peromelia
- Preaxial foot polydactyly
- Short humerus
- Short shinbone
- Upper limb phocomelia
- Webbed 1st-5th fingers
- 6 long bones of hand
- Abnormality of the wrist
- Absent shankbone
- Duplicated calf bone
- Duplication of bones of the toes
- Extra little finger
- Fusion of wrist bones
- Limb duplication
- Talipes
- Broad thumb
- 1-5 finger complete cutaneous syndactyly
- Broad foot
- Extra long bones of hand
- More than five fingers or toes on hands or feet
- Postaxial polydactyly
- Short foot
- Webbed 2nd and 3rd toes
- Webbed fingers or toes
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.). LMBR1 gene: limb development membrane protein 1. Retrieved 17 October 2026, from https://dantelabs.com/genes/lmbr1
Dante Labs. LMBR1 gene: limb development membrane protein 1 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/lmbr1
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