RBCC Red Blood Cell Collection

LPIN2_HUMAN

Source: PM19886704
PM23856902
PM22954596
Marked as 'Membrane associated protein'
Confidence: medium (present in either hRBCD or BSc_CH or PM22954596) Search PubMed for
(RBC AND this entry)
Gene names: LPIN2 , KIAA0249
Protein names and data: LPIN2_HUMAN , Phosphatidate phosphatase LPIN2; 3.1.3.4 , Lipin-2 Lenght: 896 a.a.
Mass: 99399 Da
fasta formatted sequence
Function: Plays important roles in controlling the metabolism of fatty acids at differents levels. Acts as a magnesium-dependent phosphatidate phosphatase enzyme which catalyzes the conversion of phosphatidic acid to diacylglycerol during triglyceride, phosphatidylcholine and phosphatidylethanolamine biosynthesis in the reticulum endoplasmic membrane. Acts also as a nuclear transcriptional coactivator for PPARGC1A to modulate lipid metabolism (By similarity).
Catalytic activity: A 1,2-diacylglycerol 3-phosphate + H(2)O = a 1,2-diacyl-sn-glycerol + phosphate.
Disease: ( OMIM: 605519 609628 ) Majeed syndrome (MAJEEDS) [MIM:609628]: An autosomal recessive syndrome characterized by chronic recurrent multifocal osteomyelitis that is of early onset with a lifelong course, congenital dyserythropoietic anemia that presents as hypochromic, microcytic anemia during the first year of life and ranges from mild to transfusion-dependent, and transient inflammatory dermatosis, often manifesting as Sweet syndrome (neutrophilic skin infiltration). Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location: Nucleus (By similarity). Cytoplasm, cytosol (By similarity). Endoplasmic reticulum membrane (By similarity). Note=Translocates to endoplasmic reticulum membrane with increasing levels of oleate (By similarity).
Tissue specificity: Expressed in liver, lung, kidney, placenta, spleen, thymus, lymph node, prostate, testes, small intestine, and colon.

Genetic variants

734 - 734 S -> L (in MAJEEDS). VAR_023817

Database cross-references

UniProt: Q92539
Ensembl: ENST00000261596
MIM: 605519
MIM: 609628
neXtProt: NX_Q92539
Antibodypedia: Q92539 (may not find the protein thus also not any antibody)
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