LMBR1L Gene
Limb Development Membrane Protein 1 Like
Gene Information Card
| Symbol | LMBR1L |
|---|---|
| Full Name | Limb Development Membrane Protein 1 Like |
| Gene Type | Protein coding |
| Chromosomal Location | 12q13.12 |
| NCBI Gene ID | 55716 ncbi.nlm.nih.gov/gene/55716 |
| Ensembl ID | ENSG00000139618 |
| UniProt ID | Q8N9V2 |
| OMIM ID | 610007 |
| HGNC ID | 28591 |
| Aliases | LMBR1L, dJ1103G7.1 |
Description
LMBR1L (Limb Development Membrane Protein 1 Like) is a protein-coding gene located on chromosome 12q13.12. It encodes a transmembrane protein with similarity to LMBR1, which is involved in limb development. The protein is predicted to function in intracellular trafficking and membrane organization. Expression data from GTEx and other sources indicate broad tissue expression with highest levels in the thyroid, adrenal gland, and salivary gland.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No curated disease associations | Not applicable | No evidence in ClinVar or OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Thyroid | 15.2 | Medium |
| Adrenal gland | 12.8 | Medium |
| Salivary gland | 11.5 | Medium |
| Kidney | 9.3 | Low |
| Liver | 7.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 10.5 | Moderate expression |
| HeLa | 8.2 | Low expression |
| K562 | 6.4 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No reported pathogenic variants | Not applicable | Not applicable | Not applicable |
Mutation functional classification
Loss of Function (LOF)
No data available
Gain of Function (GOF)
No data available
Dominant Negative (DN)
No data available
View complete mutation data：
Gene Ontology (GO)
| • integral component of membrane | • protein binding |
Pathways
• No curated pathways
Protein Summary
The LMBR1L protein is a multi-pass transmembrane protein of unknown function. It shares sequence similarity with LMBR1, a protein implicated in limb development and sonic hedgehog signaling. Based on structural predictions, LMBR1L may be involved in endosomal trafficking or receptor-mediated signaling, but its precise biological role remains to be elucidated.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| LMBR1L Knockout HEK293 Cell Line | EDJ-KQ13314 | Human | 55716 | Details Get a Quote |
| LMBR1L Knockout A-549 Cell Line | EDJ-KQ44004 | Human | 55716 | Details Get a Quote |
| LMBR1L Knockout HCT 116 Cell Line | EDJ-KQ44006 | Human | 55716 | Details Get a Quote |
| LMBR1L Knockout HeLa Cell Line | EDJ-KQ44007 | Human | 55716 | Details Get a Quote |
