Human LEM domain containing 3 ELISA Kit | LEMD3 elisa kit

Human Inner nuclear membrane protein Man1, LEMD3 ELISA Kit

Cat. Num. AAA9330215

• Gene Names: LEMD3; MAN1
• Reactivity: Human
• Synonyms: LEM domain containing 3; Human Inner nuclear membrane protein Man1; LEMD3 ELISA Kit; Human Inner nuclear membrane protein Man1 (LEMD3) ELISA kit; MAN1; integral inner nuclear membrane protein; LEMD3 elisa kit

• Reactivity: Human

• Preparation and Storage: Store all reagents at 2-8 degree C

NCBI and Uniprot Product Information

• NCBI GI #: 264681410
• NCBI GeneID: 23592
• NCBI Accession #: NP_001161086.1
• NCBI GenBank Nucleotide #: NM_001167614.1
• UniProt Accession #: Q9Y2U8; Q9NT47; Q9NYA5
• Molecular Weight: 99,997 Da
• NCBI Official Full Name: inner nuclear membrane protein Man1 isoform 2
• NCBI Official Synonym Full Names: LEM domain containing 3
• NCBI Official Symbol: LEMD3
• NCBI Official Synonym Symbols: MAN1
• NCBI Protein Information: inner nuclear membrane protein Man1; LEM domain-containing protein 3; integral inner nuclear membrane protein
• UniProt Protein Name: Inner nuclear membrane protein Man1
• Protein Family: Inner nuclear membrane protein
• UniProt Gene Name: LEMD3
• UniProt Synonym Gene Names: MAN1
• UniProt Entry Name: MAN1_HUMAN

NCBI Description

This locus encodes a LEM domain-containing protein. The encoded protein functions to antagonize transforming growth factor-beta signaling at the inner nuclear membrane. Two transcript variants encoding different isoforms have been found for this gene. Mutations in this gene have been associated with osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis.[provided by RefSeq, Nov 2009]

Uniprot Description

MAN1: Can function as a specific repressor of TGF-beta, activin, and BMP signaling through its interaction with the R-SMAD proteins. Antagonizes TGF-beta-induced cell proliferation arrest. Defects in LEMD3 are the cause of Buschke-Ollendorff syndrome (BOS); also known as dermatoosteopoikilosis or disseminated dermatofibrosis with osteopoikilosis or dermatofibrosis lenticularis disseminata with osteopoikilosis or osteopathia condensans disseminata. BOS refers to the association of osteopoikilosis with disseminated connective-tissue nevi. Osteopoikilosis is a skeletal dysplasia characterized by a symmetric but unequal distribution of multiple hyperostotic areas in different parts of the skeleton. Both elastic-type nevi (juvenile elastoma) and collagen-type nevi (dermatofibrosis lenticularis disseminata) have been described in BOS. Skin or bony lesions can be absent in some family members, whereas other relatives may have both. Defects in LEMD3 are a cause of melorheostosis (MEL). Melorheostosis is a rare mesenchymal dysplasia and one of the sclerosing bone disorders. It is caused by a developmental error, with a sclerotomal distribution, frequently involving one limb. It may be asymptomatic, but pain, stiffness with limitation of motion, leg-length discrepancy and limb deformity may occur.

Protein type: Membrane protein, integral; Membrane protein, multi-pass; Nuclear envelope

Chromosomal Location of Human Ortholog: 12q14

Cellular Component: membrane; integral to membrane; nuclear inner membrane; integral to nuclear inner membrane

Molecular Function: protein binding; DNA binding; nucleotide binding

Biological Process: blood vessel endothelial cell migration during intussusceptive angiogenesis; negative regulation of activin receptor signaling pathway; regulation of cell cycle; negative regulation of transforming growth factor beta receptor signaling pathway; nuclear organization and biogenesis; negative regulation of BMP signaling pathway

Disease: Buschke-ollendorff Syndrome; Melorheostosis, Isolated