LMBR1, Official Symbol LMBR1provided by HGNC Official Full Name limb development membrane protein 1provided by HGNC Primary source HGNC:HGNC:13243 See related Ensembl:ENSG00000105983 MIM:605522; AllianceGenome:HGNC:13243 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as LSS; TPT; ZRS; ACHP; PPD2; THYP; DIF14; TPTPS; C7orf2 Summary 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] Expression Ubiquitous expression in testis (RPKM 9.4), adrenal (RPKM 8.4) and 25 other tissues See more Orthologs mouse all