Gene Symbol | LMBR1 |
Entrez Gene ID | 64327 |
Full Name | limb development membrane protein 1 |
Synonyms | ACHP,C7orf2,DIF14,LSS,PPD2,THYP,TPT,ZRS |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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]. |
Disorder MIM: | |
Disorder Html: | Acheiropody, 200500 (3); Polydactyly, preaxial type II, 174500 (3); Triphalangeal thumb, type I, 174500 (3); Triphalangeal thumb-polysyndactyly syndrome, 174500 (3); Syndactyly, type IV, 186200 (3); Hypoplastic or aplastic tibia with polydactyly, 188740 (3); Laurin-Sandrow syndrome, 135750 (3) |