Lmbr1 Gene Search Result

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4 records found for search term Lmbr1

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RGD ID	Symbol	Name	Description	Chr	Start	Stop	Species	Annotations	Match	Type
1352056	LMBR1	limb development membrane protein 1	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 ... (more) 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]	7	156669012	156893183	Human	246	symbol , COSMIC , description , Human Proteome Map	gene, protein-coding, REVIEWED [RefSeq]
733977	LMBRD1	LMBR1 domain containing 1	This gene encodes a lysosomal membrane protein that may be involved in the transport and metabolism of cobalamin. This protein also interacts with the large form of the hepatitis delta antigen and may be required for the nucleocytoplasmic shuttling of the hepatitis delta virus. Mutations in this gen ... (more) e are associated with the vitamin B12 metabolism disorder termed, homocystinuria-megaloblastic anemia complementation type F.[provided by RefSeq, Oct 2009]	6	69674010	69797010	Human	206	old_gene_name , name	gene, protein-coding, REVIEWED [RefSeq]
1603597	LMBRD2	LMBR1 domain containing 2	Involved in adrenergic receptor signaling pathway. Located in membrane. [provided by Alliance of Genome Resources, Jul 2025]	5	36098407	36151887	Human	103	old_gene_name , name	gene, protein-coding, VALIDATED [RefSeq]
1603995	LMBR1L	limb development membrane protein 1 like	Enables transmembrane signaling receptor activity. Involved in receptor-mediated endocytosis and signal transduction. Located in endoplasmic reticulum membrane and plasma membrane. [provided by Alliance of Genome Resources, Jul 2025]	12	49097139	49110847	Human	74	symbol , COSMIC , Human Proteome Map	gene, protein-coding, VALIDATED [RefSeq]