{"error":"none","results":[{"aa_position":[],"accession":"NM_018444","definition":"Homo sapiens pyruvate dehydrogenase phosphatase catalytic subunit 1 (PDP1), transcript variant 5, mRNA.","division":"RefSeq","geneid":"54704","gi":"","length":"4210","nt_position":[],"snippet":"PUBMED 34138529 REFERENCE 8 (bases 1 to 4210) AUTHORS Ito,M., Kobashi,H., Naito,E., Saijo,T., Takeda,E., Huq,A.H. and Kuroda,Y. TITLE Decrease of pyruvate dehydrogenase phosphatase activity in patients with congenital lactic acidemia JOURNAL Clin Chim Acta 209 (1-2), 1-7 (1992) PUBMED 1327585 REMARK GeneRIF: In cultured skin fibroblasts from three patients with congenital lactic acidemia due to a defect in activation of the pyruvate dehydrogenase complex, the PDP-activity was significantly reduced to 50.7%, 64.6% and 63.1% of that of control fibroblasts. REFERENCE 9 (bases 1 to 4210) AUTHORS...","source":"Homo sapiens (human)","symbol":"PDP1","synonym":"PDH; PDP; PDPC; PDPC 1; PPM2A; PPM2C","version":"NM_018444.4"},{"aa_position":[],"accession":"NM_001161780","definition":"Homo sapiens pyruvate dehydrogenase phosphatase catalytic subunit 1 (PDP1), transcript variant 3, mRNA.","division":"RefSeq","geneid":"54704","gi":"","length":"4245","nt_position":[],"snippet":"PUBMED 34138529 REFERENCE 8 (bases 1 to 4245) AUTHORS Ito,M., Kobashi,H., Naito,E., Saijo,T., Takeda,E., Huq,A.H. and Kuroda,Y. TITLE Decrease of pyruvate dehydrogenase phosphatase activity in patients with congenital lactic acidemia JOURNAL Clin Chim Acta 209 (1-2), 1-7 (1992) PUBMED 1327585 REMARK GeneRIF: In cultured skin fibroblasts from three patients with congenital lactic acidemia due to a defect in activation of the pyruvate dehydrogenase complex, the PDP-activity was significantly reduced to 50.7%, 64.6% and 63.1% of that of control fibroblasts. REFERENCE 9 (bases 1 to 4245) AUTHORS...","source":"Homo sapiens (human)","symbol":"PDP1","synonym":"PDH; PDP; PDPC; PDPC 1; PPM2A; PPM2C","version":"NM_001161780.2"},{"aa_position":[],"accession":"NM_001161781","definition":"Homo sapiens pyruvate dehydrogenase phosphatase catalytic subunit 1 (PDP1), transcript variant 4, mRNA.","division":"RefSeq","geneid":"54704","gi":"","length":"4349","nt_position":[],"snippet":"PUBMED 34138529 REFERENCE 8 (bases 1 to 4349) AUTHORS Ito,M., Kobashi,H., Naito,E., Saijo,T., Takeda,E., Huq,A.H. and Kuroda,Y. TITLE Decrease of pyruvate dehydrogenase phosphatase activity in patients with congenital lactic acidemia JOURNAL Clin Chim Acta 209 (1-2), 1-7 (1992) PUBMED 1327585 REMARK GeneRIF: In cultured skin fibroblasts from three patients with congenital lactic acidemia due to a defect in activation of the pyruvate dehydrogenase complex, the PDP-activity was significantly reduced to 50.7%, 64.6% and 63.1% of that of control fibroblasts. REFERENCE 9 (bases 1 to 4349) AUTHORS...","source":"Homo sapiens (human)","symbol":"PDP1","synonym":"PDH; PDP; PDPC; PDPC 1; PPM2A; PPM2C","version":"NM_001161781.2"},{"aa_position":[],"accession":"NM_001161779","definition":"Homo sapiens pyruvate dehydrogenase phosphatase catalytic subunit 1 (PDP1), transcript variant 2, mRNA.","division":"RefSeq","geneid":"54704","gi":"","length":"4384","nt_position":[],"snippet":"PUBMED 34138529 REFERENCE 8 (bases 1 to 4384) AUTHORS Ito,M., Kobashi,H., Naito,E., Saijo,T., Takeda,E., Huq,A.H. and Kuroda,Y. TITLE Decrease of pyruvate dehydrogenase phosphatase activity in patients with congenital lactic acidemia JOURNAL Clin Chim Acta 209 (1-2), 1-7 (1992) PUBMED 1327585 REMARK GeneRIF: In cultured skin fibroblasts from three patients with congenital lactic acidemia due to a defect in activation of the pyruvate dehydrogenase complex, the PDP-activity was significantly reduced to 50.7%, 64.6% and 63.1% of that of control fibroblasts. REFERENCE 9 (bases 1 to 4384) AUTHORS...","source":"Homo sapiens (human)","symbol":"PDP1","synonym":"PDH; PDP; PDPC; PDPC 1; PPM2A; PPM2C","version":"NM_001161779.2"}],"summary":[{"count":4,"keyword":"ref:1327585"},{"count":4,"keyword":"[INTERSECTION]"}],"time":"2026-04-24 19:51:50","version":"GGRNA.v2 : RefSeq release 233 (Jan, 2026)"}