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Protein-coding gene in the species Homo sapiens
acyltransferase beta is an enzyme that in humans is encoded by the AGPAT2 gene. This gene encodes a member of the 1-acylglycerol-3-phosphate O-acyltransferase
AGPAT2
Genetic disorder; extreme lack of fat under the skin
individuals with Type 1 CGL, the disorder is caused by a mutation at the AGPAT2 gene encoding 1-acylglycerol-3-phosphate O-acyltransferase 2 and located
Congenital generalized lipodystrophy
Congenital_generalized_lipodystrophy
Medical condition
diabetes. Another gene that has been associated with this condition is AGPAT2. This not known with certainty but is estimated to be about one per million
Familial partial lipodystrophy
Familial_partial_lipodystrophy
Procollagen N-peptidase Dermatosparaxis variant of Ehlers–Danlos syndrome AGPAT2 Berardinelli–Seip syndrome AIRE APECED syndrome APC Familial polyposis coli
List of genes mutated in cutaneous conditions
List_of_genes_mutated_in_cutaneous_conditions
Protein-coding gene in the species Homo sapiens
patients with congenital generalized lipodystrophy caused by mutations in the AGPAT2 or seipin genes". J. Clin. Endocrinol. Metab. 88 (11): 5433–7. doi:10.1210/jc
BSCL2
Protein family
Rochford JJ (March 2015). "Seipin oligomers can interact directly with AGPAT2 and lipin 1, physically scaffolding critical regulators of adipogenesis"
Seipin
HGNC:18421; Q9H9G7 438 AGO4 HGNC:18424; Q9HCK5 439 AGPAT1 HGNC:324; Q99943 440 AGPAT2 HGNC:325; O15120 441 AGPAT3 HGNC:326; Q9NRZ7 442 AGPAT4 HGNC:20885; Q9NRZ5
List of human protein-coding genes 1
List_of_human_protein-coding_genes_1
Protein family
1-acyl-sn-glycerol-3-phosphate acyltransferase InterPro: IPR004552 AGPAT1; AGPAT2; AGPAT3; AGPAT4; AGPAT5; AGPAT6; AGPAT7; AYTL1; AYTL2; GNPAT; GPAM; GPAT3;
Phospholipid_acyltransferase
combined; 246650; LMF1 Lipodystrophy, congenital generalized, type 1; 608594; AGPAT2 Lipodystrophy, congenital generalized, type 2; 269700; BSCL2 Lipodystrophy
List_of_OMIM_disorder_codes
AGPAT2
AGPAT2
AGPAT2
AGPAT2
Boy/Male
Hindu, Indian, Telugu
Lord of Subramanyam; Son of Lord Shiva; Kartikeya
Girl/Female
British, English
Broad Field
Boy/Male
Tamil
Auspicious
Boy/Male
Indian, Marathi
Loveable Swan
Girl/Female
Hindu
Fame
Boy/Male
French
Gray-haired.
Girl/Female
Arabic, Indian, Muslim, Parsi
Turquoise
Boy/Male
English French
From the villa by the march.
Boy/Male
Tamil
Male
Spanish
Spanish form of Latin Alaricus, ALARICO means "all-powerful; ruler of all."
AGPAT2
AGPAT2
AGPAT2
AGPAT2
AGPAT2