mitochondrial is an enzyme that in humans is encoded by the SUCLG1 gene. The enzyme encoded by SUCLG1 can exist in either a phosphorylated form or a dephosphorylated...
7 KB (940 words) - 21:42, 3 March 2023
think are not affected. In MDDS associated with mutations in SUCLA2 or SUCLG1 that primarily affect the brain and muscle, hypotonia generally arises in...
23 KB (2,562 words) - 15:09, 27 October 2024
encephalomyopathic form with methylmalonic aciduria <1:1,000,000 Infancy SUCLG1 245400 SUCLG1-related mtDNA depletion syndrome, encephalomyopathic form with methylmalonic...
48 KB (4,435 words) - 15:54, 30 October 2024
SLC25A10, TK2, POLG, SLC25A21, SUCLA2, TWNK, TFAM, AGK, MRM2, SLC25A4, OPA1, SUCLG1 AR/AD PS603041 Mitochondrial myopathy, infantile, transient (MMIT) (Mitochondrial...
43 KB (3,582 words) - 16:26, 16 October 2024
encoded by 2 genes. SUCLG2 is GTP-specific and SUCLA2 is ATP-specific, while SUCLG1 encodes the common α-subunit. β variants are produced at different amounts...
18 KB (1,978 words) - 10:07, 20 September 2024
Q5VZP5 16047 SUB1 HGNC:19985 P53999 16048 SUCLA2 HGNC:11448 Q9P2R7 16049 SUCLG1 HGNC:11449 P53597 16050 SUCLG2 HGNC:11450 Q96I99 16051 SUCNR1 HGNC:4542...
242 KB (17 words) - 18:43, 6 October 2024
(SUCL), is a heterodimer composed of a catalytic α subunit encoded by the SUCLG1 gene and a β subunit encoded by either the SUCLA2 gene or the SUCLG2 gene...
14 KB (1,745 words) - 05:53, 12 January 2024
(SUCL), is a heterodimer composed of a catalytic α subunit encoded by the SUCLG1 gene and a β subunit encoded by either the SUCLA2 gene or the SUCLG2 gene...
7 KB (881 words) - 22:23, 3 March 2023
persistence/nonpersistence; 223100; MCM6 Lactic acidosis, fatal infantile; 245400; SUCLG1 Lacticacidemia due to PDX1 deficiency; 245349; PDX1 LADD syndrome; 149730;...
234 KB (18,877 words) - 06:16, 6 November 2024