LMBR1
Sign in to saveAlso known as ACHP, C7orf2, DIF14, PPD2, TPT, ZRS, LSS, THYP
Limb region 1 protein homolog is a protein that in humans is encoded by the LMBR1 gene.
Gene data
LMBR1- Name
- limb development membrane protein 1
- Type
- protein-coding
- Aliases
- ACHP, C7orf2, DIF14, PPD2, THYP, TPT, TPTPS, ZRS
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. Mutations and chromosomal deletions and rearrangements in this genic region are associated with acheiropody and preaxial polydactyly, which likely result from altered sonic hedgehog expression. [provided by RefSeq, Jul 2008].
via MyGene.info
Gene · Ensembl
limb development membrane protein 1
- Symbol
- LMBR1
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 7:156,668,946-156,893,225
- Strand
- Reverse (−)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
~1 min read
Encyclopedic overview
2 sectionsContents
- References
- Further reading
Limb region 1 protein homolog is a protein that in humans is encoded by the LMBR1 gene.
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 (protein) 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 if this gene functions directly in limb development is unknown. Mutations and chromosomal deletions and rearrangements in this genic region are associated with acheiropody and preaxial polydactyly, which likely result from altered sonic hedgehog expression.
Excerpted from Wikipedia’s “LMBR1” article, available under the CC BY-SA 4.0 licence.