Lmbr1 Gene Summary [Mouse]
This gene encodes a member of the LMBR1-like membrane protein family. Another member of this protein family has been shown to be a lipocalin transmembrane receptor. A highly conserved, cis-acting regulatory module for the sonic hedgehog gene is located within an intron of this gene. Consequently, disruption of this genic region can alter sonic hedgehog expression and affect limb patterning, but it is not known if this gene functions directly in limb development. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | Lmbr1 |
| Official Name | limb region 1 [Source:MGI Symbol;Acc:MGI:1861746] |
| Ensembl ID | ENSMUSG00000010721 |
| Bio databases IDs | |
| Aliases | limb region 1 |
| Synonyms | 1110048D14RIK, ACHP, C79130, C7ORF2, DIF14, limb development membrane protein 1, limb region 1, LSS, PPD2, RGD1563910, THYP, TPT, TPTPS, ZRS |
| Species | Mouse, Mus musculus |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in mouse Lmbr1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- LMBR1-like membrane protein
- protein binding
- transmembrane receptor
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- syndactyly
- preaxial II polydactyly
- triphalangeal thumb
- acheiropody
- triphalangeal thumb with polysyndactyly
- oligodactyly
- brachyphalangia
- mirror-image polydactyly
- hypoplasia or aplasia of tibia with polydactyly
- syndactyly type IV
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Lmbr1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- signal transduction
- embryonic digit morphogenesis
Cellular Component
Where in the cell the gene product is active
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- transmembrane signaling receptor activity
- protein binding