LMBR1L — limb development membrane protein 1 like

5 sources retrieved · Most recent: April 2026 · Index updated 5 months 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 membranecancerneoplasmT-B+ severe combined immunodeficiency due to gamma chain deficiencysevere combined immunodeficiency due to IKK2 deficiency

AI Summary

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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

neoplasmOpen Targets

0.07Suggestive

T-B+ severe combined immunodeficiency due to gamma chain deficiencyOpen Targets

0.06Suggestive

severe combined immunodeficiency due to IKK2 deficiencyOpen Targets

0.06Suggestive

immunodeficiency 128Open Targets

0.06Suggestive

immunodeficiency 14b, autosomal recessiveOpen Targets

0.06Suggestive

immunodeficiency 112Open Targets

0.06Suggestive

Wiskott-Aldrich syndromeOpen Targets

0.06Suggestive

severe combined immunodeficiency due to CARD11 deficiencyOpen Targets

0.06Suggestive

immunodeficiency 18Open Targets

0.05Suggestive

severe combined immunodeficiency due to CD70 deficiencyOpen Targets

0.05Suggestive

monocytopenia with susceptibility to infectionsOpen Targets

0.05Suggestive

immunodeficiency 105Open Targets

0.05Suggestive

agammaglobulinemia 7, autosomal recessiveOpen Targets

0.05Suggestive

autosomal agammaglobulinemiaOpen Targets

0.05Suggestive

isolated agammaglobulinemiaOpen Targets

0.05Suggestive

X-linked severe congenital neutropeniaOpen Targets

0.05Suggestive

autosomal dominant severe congenital neutropeniaOpen Targets

0.05Suggestive

neutropenia, severe congenital, 1, autosomal dominantOpen Targets

0.05Suggestive

nonimmune chronic idiopathic neutropenia of adultsOpen Targets

0.05Suggestive

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

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StructureAlphaFold

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AlphaFoldAI-predicted · UniProt Q6UX01

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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
#4,580of 5,529
Most Pathogenic Variants2
#7,201of 17,882
Most Constrained (LOEUF)0.84