Mouse Prolyl 3 hydroxylase 2 ELISA Kit | LEPREL1 elisa kit

Mouse Prolyl 3 hydroxylase 2 ELISA Kit

Cat. Num. AAA725335

• Gene Names: LEPREL1; MCVD; P3H2; MLAT4
• Reactivity: Mouse
• Synonyms: Prolyl 3 hydroxylase 2; Mouse Prolyl 3 hydroxylase 2 ELISA Kit; LEPREL1 elisa kit

• Reactivity: Mouse

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

NCBI and Uniprot Product Information

• NCBI GI #: 27764882
• NCBI GeneID: 55214
• NCBI Accession #: NP_060662.2
• NCBI GenBank Nucleotide #: NM_018192.3
• Molecular Weight: 60,387 Da
• NCBI Official Full Name: prolyl 3-hydroxylase 2 isoform a
• NCBI Official Synonym Full Names: leprecan-like 1
• NCBI Official Symbol: LEPREL1
• NCBI Official Synonym Symbols: MCVD; P3H2; MLAT4
• NCBI Protein Information: prolyl 3-hydroxylase 2; prolyl 3-hydroxylase 3; myxoid liposarcoma-associated protein 4
• UniProt Protein Name: Prolyl 3-hydroxylase 2
• UniProt Gene Name: LEPREL1
• UniProt Synonym Gene Names: MLAT4; P3H2
• UniProt Entry Name: P3H2_HUMAN

NCBI Description

This gene encodes a member of the prolyl 3-hydroxylase subfamily of 2-oxo-glutarate-dependent dioxygenases. These enzymes play a critical role in collagen chain assembly, stability and cross-linking by catalyzing post-translational 3-hydroxylation of proline residues. Mutations in this gene are associated with nonsyndromic severe myopia with cataract and vitreoretinal degeneration, and downregulation of this gene may play a role in breast cancer. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]

Uniprot Description

LEPREL1: Shows prolyl 3-hydroxylase activity catalyzing the post- translational formation of 3-hydroxyproline in -Xaa-Pro-Gly- sequences in collagens, especially types II, IV and V. Defects in LEPREL1 are the cause of myopia high with cataract and vitreoretinal degeneration (MCVD). A disorder characterized by severe myopia with variable expressivity of cataract and vitreoretinal degeneration. Some patients manifest lens subluxation, lens instability and retinal detachment. Belongs to the leprecan family.

Protein type: EC 1.14.11.7; Oxidoreductase

Chromosomal Location of Human Ortholog: 3q28

Cellular Component: Golgi apparatus; endoplasmic reticulum lumen; endoplasmic reticulum; basement membrane

Molecular Function: procollagen-proline 3-dioxygenase activity; L-ascorbic acid binding; iron ion binding

Biological Process: negative regulation of cell proliferation; extracellular matrix organization and biogenesis; collagen metabolic process; peptidyl-proline hydroxylation

Disease: Myopia, High, With Cataract And Vitreoretinal Degeneration