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DHTKD1

DHTKD1

Protein-coding gene in the species Homo sapiens

containing 1 is a mitochondrial protein that in humans is encoded by the DHTKD1 gene. This gene encodes a component of the 2-oxoadipate dehydrogenase complex

DHTKD1

Alpha-aminoadipic and alpha-ketoadipic aciduria

Medical condition

alpha-ketoadipic acid and alpha-aminoadipic acid. It is caused by mutations in DHTKD1, which encodes the E1 subunit of the oxoglutarate dehydrogenase complex

Alpha-aminoadipic and alpha-ketoadipic aciduria

Alpha-aminoadipic_and_alpha-ketoadipic_aciduria

2-oxoadipate dehydrogenase complex

Multienzyme complex

in ROS production and metabolic regulation. Biallelic mutations in the DHTKD1 gene, which encodes the E1a component of the OADHC, cause a rare autosomal

2-oxoadipate dehydrogenase complex

2-oxoadipate_dehydrogenase_complex

Lysine

Amino acid

pyridoxine-dependent epilepsia (ALDH7A1 gene), α-ketoadipic and α-aminoadipic aciduria (DHTKD1 gene), and glutaric aciduria type 1 (GCDH gene). Hyperlysinuria is marked

Lysine

Charcot–Marie–Tooth disease classifications

Peripheral nervous system disorders

Autosomal recessive Juvenile or adult onset, slowly progressive CMT2Q 615025 DHTKD1 10p14 Autosomal dominant CMT2R 615490 TRIM2 4q31.3 Autosomal recessive CMT2S

Charcot–Marie–Tooth disease classifications

Charcot–Marie–Tooth_disease_classifications

Alpha-aminoadipic semialdehyde synthase

Protein-coding gene in the species Homo sapiens

Okun JG, Meitinger T, Hoffmann GF, Prokisch H, Kölker S (December 2012). "DHTKD1 mutations cause 2-aminoadipic and 2-oxoadipic aciduria". American Journal

Alpha-aminoadipic semialdehyde synthase

Alpha-aminoadipic_semialdehyde_synthase

Taosheng Huang

American geneticist and physician scientist

NAA10 in Lenz microphthalmia syndrome (Esmailpour et al, JMG, 2014), and DHTKD1 and OGDHL in eosinophilic esophagitis (Sherrill et al, 2018, JCI Insight)

Taosheng Huang

Taosheng_Huang

List of human protein-coding genes 2

A0PJE2 4243 DHRS13 HGNC:28326; Q6UX07 4244 DHRSX HGNC:18399; Q8N5I4 4245 DHTKD1 HGNC:23537; Q96HY7 4246 DHX8 HGNC:2749; Q14562 4247 DHX9 HGNC:2750; Q08211

List of human protein-coding genes 2

List_of_human_protein-coding_genes_2