LMBR1L — limb development membrane protein 1 like

5 sources retrieved · Most recent: April 2026 · Index updated 25 days ago

25PubMed Papers

#13,015 · top 67% of 19K genes

20Diseases

top 69%

0Drugs

2Pathogenic Variants

top 82%

ReceptorExperimental GO EvidenceSwiss-Prot Reviewed

transmembrane signaling receptor activitysignal transductionprotein bindingplasma membranecancerisolated agammaglobulinemianeoplasmimmunodeficiency 18

AI Summary

AI summary not yet available. Showing NCBI Gene summary.

limb development membrane protein 1 like

⚠Limited data available — This gene has 0 indexed publications. Summary and analysis may be incomplete.

Disease Associations20

cancerOpen Targets

0.08Suggestive

isolated agammaglobulinemiaOpen Targets

0.08Suggestive

neoplasmOpen Targets

0.07Suggestive

immunodeficiency 18Open Targets

0.07Suggestive

severe combined immunodeficiency due to CARD11 deficiencyOpen Targets

0.07Suggestive

combined immunodeficiency due to CTPS1 deficiencyOpen Targets

0.07Suggestive

classic Hodgkin lymphomaOpen Targets

0.07Suggestive

Hodgkins lymphomaOpen Targets

0.07Suggestive

autoimmune diseaseOpen Targets

0.07Suggestive

combined immunodeficiency with skin granulomasOpen Targets

0.07Suggestive

ICF syndromeOpen Targets

0.07Suggestive

common variable immunodeficiencyOpen Targets

0.07Suggestive

T-B+ severe combined immunodeficiency due to JAK3 deficiencyOpen Targets

0.07Suggestive

severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positiveOpen Targets

0.07Suggestive

activated PI3K-delta syndromeOpen Targets

0.07Suggestive

Wiskott-Aldrich syndromeOpen Targets

0.07Suggestive

immunodeficiency 105Open Targets

0.07Suggestive

agammaglobulinemia 7, autosomal recessiveOpen Targets

0.07Suggestive

short-limb skeletal dysplasia with severe combined immunodeficiencyOpen Targets

0.07Suggestive

X-Linked Combined Immunodeficiency DiseasesOpen Targets

0.07Suggestive

Pathogenic Variants2

NM_018113.4(LMBR1L):c.863G>A (p.Arg288Gln)Likely pathogenic

DSD incomplete virilization

☆☆☆☆2021→ Residue 288

NM_018113.4(LMBR1L):c.862C>T (p.Arg288Trp)Likely pathogenic

DSD incomplete virilization

☆☆☆☆2021→ Residue 288

Tissue Expression6 tissues

Ovary

100%

Bone Marrow

75%

Lung

72%

Liver

48%

Heart

38%

Brain

12%

Gene Interaction Network6 neighbors

Click a node to explore

StructureAlphaFold

Preparing viewer…

AlphaFoldAI-predicted · UniProt Q6UX01

View on AlphaFold

ConstraintgnomAD v4.1

LOEUFⓘ

0.84LoF Tolerant

pLIⓘ

0.00Tolerant

Observed/Expected LoF0.64 [0.50–0.84]

Rankings3 dim

Where LMBR1L stands among ~20K protein-coding genes

#13,009of 20,598
Most Researched25
#4,533of 5,499
Most Pathogenic Variants2
#7,201of 17,882
Most Constrained (LOEUF)0.84