LMBR1
Description
The LMBR1 (limb development membrane protein 1) is a protein-coding gene located on chromosome 7.
The LMBR1 gene encodes a protein called Limb region 1 protein homolog. This protein belongs to the LMBR1-like membrane protein family, where other members have been identified as lipocalin transmembrane receptors. A crucial regulatory region for the sonic hedgehog gene is located within an intron of LMBR1. Disrupting this region can alter sonic hedgehog expression, impacting limb development. While the direct role of LMBR1 in limb development remains unclear, mutations and chromosomal abnormalities in this gene are linked to acheiropody and preaxial polydactyly, likely due to altered sonic hedgehog expression.
Putative membrane receptor.
LMBR1 is also known as ACHP, C7orf2, DIF14, LSS, PPD2, THYP, TPT, TPTPS, ZRS.
Associated Diseases
- Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome
- Laurin-Sandrow syndrome
- Syndactyly, type IV
- Acheiropody
- Isolated radial hemimelia
- Syndactyly type 4
- Triphalangeal thumb-polysyndactyly syndrome
- Isolated acheiropodia
