Aliases for LMBR1 Gene
External Ids for LMBR1 Gene
Previous Symbols for 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 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]
GeneCards Summary for LMBR1 Gene
LMBR1 (Limb Development Membrane Protein 1) is a Protein Coding gene. Diseases associated with LMBR1 include congenital amputation and acheiropody. Among its related pathways are Regulation of Cholesterol Biosynthesis by SREBP (SREBF) and Metabolism. An important paralog of this gene is LMBR1L.
UniProtKB/Swiss-Prot for LMBR1 Gene
Putative membrane receptor