InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: LMBR1

Summary

InnateDB Protein

IDBP-50605.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

LMBR1

Protein Name

limb region 1 homolog (mouse)

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000326604

InnateDB Gene

IDBG-50601 (LMBR1)

Protein Structure

UniProt Annotation

Function

Putative membrane receptor.

Subcellular Localization

Membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}.

Disease Associations

Preaxial polydactyly 2 (PPD2) [MIM:174500]: Polydactyly consists of duplication of the distal phalanx. The thumb in PPD2 is usually opposable and possesses a normal metacarpal. Note=The disease is caused by mutations affecting the gene represented in this entry. Disease-causing mutations are located in intron 5 of LMBR1. The mutations do not alter normal LMBR1 expression and function, but disrupt a long-range, cis-regulatory element of SHH expression contained in LMBR1 intron 5 (PubMed:12837695). {ECO:0000269PubMed:12837695}.Acheiropody (ACHP) [MIM:200500]: Very rare condition characterized by bilateral congenital amputations of the hands and feet. The specific malformative phenotype consists of a complete amputation of the distal epiphysis of the humerus, amputation of the tibial diaphysis and aplasia of the radius, ulna, fibula and of all the bones of the hands and feet. {ECO:0000269PubMed:11090342}. Note=The disease is caused by mutations affecting the gene represented in this entry.Syndactyly 4 (SDTY4) [MIM:186200]: A form of syndactyly, a congenital anomaly of the hand or foot marked by persistence of the webbing between adjacent digits that are more or less completely attached. SDTY4 is characterized by complete bilateral syndactyly (involving all digits 1 to 5). A frequent association with polydactyly (with six metacarpals and six digits) has been reported. Feet are affected occasionally. {ECO:0000269PubMed:18417549}. Note=The disease is caused by mutations affecting the gene represented in this entry. Disease- causing mutations are located in intron 5 of LMBR1. The mutations do not alter normal LMBR1 expression and function, but disrupt a long-range, cis-regulatory element of SHH expression contained in LMBR1 intron 5.

Tissue Specificity

Widely expressed with strongest expression in heart and pancreas. {ECO:0000269PubMed:10329000}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.