LDHD

Summary

LDHD (lactate dehydrogenase D, HGNC:19708) is a protein-coding gene on chromosome 16q23.1, encoding D-lactate dehydrogenase, mitochondrial (Q86WU2). The mitochondrial D-lactate dehydrogenase is a stereoselective dehydrogenase that targets a wide variety of D-2-hydroxyacids, particularly those with small to moderately sized hydrophobic groups attached to the C2 atom.

The protein encoded by this gene belongs to the D-isomer specific 2-hydroxyacid dehydrogenase family. The similar protein in yeast has both D-lactate and D-glycerate dehydrogenase activities. Alternative splicing occurs at this locus and two transcript variants encoding distinct isoforms have been identified.

Source: NCBI Gene 197257 — RefSeq curated summary.

At a glance

• GWAS associations: 9
• Clinical variants (ClinVar): 120 total — 5 pathogenic, 3 likely-pathogenic
• Phenotypes (HPO): 8
• MANE Select transcript: NM_194436

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:19708
Approved symbol	LDHD
Name	lactate dehydrogenase D
Location	16q23.1
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000166816
Ensembl biotype	protein_coding
OMIM	607490
Entrez	197257

Gene structure

Transcript identifiers

Ensembl transcripts: 14 — 12 protein_coding, 1 retained_intron, 1 nonsense_mediated_decay

ENST00000300051, ENST00000450168, ENST00000568164, ENST00000569876, ENST00000867499, ENST00000867500, ENST00000867501, ENST00000867502, ENST00000867503, ENST00000953749, ENST00000953750, ENST00000953751, ENST00000953752, ENST00000953753

RefSeq mRNA: 2 — MANE Select: NM_194436 NM_153486, NM_194436

CCDS: CCDS10913, CCDS45529

Canonical transcript exons

ENST00000450168 — 11 exons

Exon	Start	End
ENSE00001106894	75112834	75112924
ENSE00001106897	75113742	75113870
ENSE00001106905	75112602	75112713
ENSE00001340929	75113535	75113662
ENSE00001618859	75113966	75114165
ENSE00002596405	75116649	75116780
ENSE00002608690	75111864	75112521
ENSE00003478709	75114526	75114685
ENSE00003513850	75115548	75115660
ENSE00003579069	75115198	75115339
ENSE00003677364	75114827	75114968

Expression profiles

Bgee: expression breadth ubiquitous, 164 present calls, max score 97.31.

FANTOM5 (CAGE): breadth broad, TPM avg 2.7873 / max 89.5846, expressed in 719 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
158136	1.6763	599
158135	0.6472	314
158134	0.4637	231

Top tissues by expression

242 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
apex of heart	UBERON:0002098	97.31	gold quality
right lobe of liver	UBERON:0001114	96.98	gold quality
mucosa of transverse colon	UBERON:0004991	96.82	gold quality
hindlimb stylopod muscle	UBERON:0004252	94.22	gold quality
heart left ventricle	UBERON:0002084	94.00	gold quality
cardiac ventricle	UBERON:0002082	93.28	gold quality
gastrocnemius	UBERON:0001388	92.47	gold quality
muscle of leg	UBERON:0001383	91.71	gold quality
right atrium auricular region	UBERON:0006631	90.33	gold quality
liver	UBERON:0002107	90.24	gold quality
transverse colon	UBERON:0001157	88.50	gold quality
heart	UBERON:0000948	88.38	gold quality
kidney epithelium	UBERON:0004819	88.26	gold quality
cardiac atrium	UBERON:0002081	88.12	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	87.43	silver quality
body of stomach	UBERON:0001161	87.32	gold quality
right adrenal gland cortex	UBERON:0035827	86.61	gold quality
adult mammalian kidney	UBERON:0000082	86.27	gold quality
anterior cingulate cortex	UBERON:0009835	85.74	gold quality
right adrenal gland	UBERON:0001233	85.64	gold quality
left ovary	UBERON:0002119	85.48	gold quality
right frontal lobe	UBERON:0002810	84.94	gold quality
body of pancreas	UBERON:0001150	84.59	gold quality
right ovary	UBERON:0002118	84.58	gold quality
metanephros cortex	UBERON:0010533	84.48	gold quality
Brodmann (1909) area 9	UBERON:0013540	83.77	gold quality
prefrontal cortex	UBERON:0000451	83.44	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	83.35	gold quality
adenohypophysis	UBERON:0002196	83.15	gold quality
left adrenal gland	UBERON:0001234	83.12	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	4.18

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

24 targeting LDHD, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-7111-5P	99.97	68.48	2062
HSA-MIR-149-3P	99.72	68.22	3963
HSA-MIR-4516	99.61	67.78	3390
HSA-MIR-4310	99.59	68.84	2527
HSA-MIR-4441	99.49	66.56	3216
HSA-MIR-6081	99.48	66.07	1446
HSA-MIR-10399-5P	99.17	69.87	2610
HSA-MIR-6504-3P	99.17	69.31	2891
HSA-MIR-4292	99.16	65.57	1767
HSA-MIR-6791-5P	99.16	65.92	1844
HSA-MIR-4434	99.10	67.01	1984
HSA-MIR-5703	99.10	67.09	2053
HSA-MIR-138-2-3P	98.91	68.33	1643
HSA-MIR-6769B-5P	98.73	64.91	1092
HSA-MIR-3179	98.22	65.90	1445
HSA-MIR-6769A-5P	97.99	64.16	851
HSA-MIR-6773-5P	97.04	64.30	595
HSA-MIR-874-5P	96.93	63.92	1014
HSA-MIR-132-5P	96.61	65.79	115
HSA-MIR-6724-5P	96.41	63.11	507
HSA-MIR-4296	96.35	63.55	1233
HSA-MIR-4265	96.18	64.68	557
HSA-MIR-4322	96.18	64.85	539
HSA-MIR-4258	90.68	62.19	164

Literature-anchored findings (GeneRIF, showing 7)

• identification and characterization of human and mouse D-lactate dehydrogenase (NAD) [D-LDH] (PMID:12127981)
• Elevated serum LDH isoenzymes and AST indicate a disturbance (of uncertain clinical significance) within multiple extraosseous tissues when there is CLCN7 deficiency. (PMID:20499337)
• The activity and expression of the mitochondrial D-lactate dehydrogenase, is higher in prostate cancer versus normal prostate cells. (PMID:23333299)
• gout can be caused by a mutation in LDHD within the putative catalytic site of the encoded d-lactate dehydrogenase, resulting in augmented blood levels of d-lactate, a stereoisomer of l-lactate (PMID:31638601)
• Cancer/testis antigen LDHC promotes proliferation and metastasis by activating the PI3K/Akt/GSK-3beta-signaling pathway and the in lung adenocarcinoma. (PMID:33301764)
• Early-onset gout and rare deficient variants of the lactate dehydrogenase D gene. (PMID:37021930)
• Systematic analysis of the role of LDHs subtype in pan-cancer demonstrates the importance of LDHD in the prognosis of hepatocellular carcinoma patients. (PMID:38291366)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	ldhd	ENSDARG00000038845
mus_musculus	Ldhd	ENSMUSG00000031958
rattus_norvegicus	Ldhd	ENSRNOG00000019036
caenorhabditis_elegans		WBGENE00009329
caenorhabditis_elegans		WBGENE00009334

Paralogs (2): AGPS (ENSG00000018510), D2HGDH (ENSG00000180902)

Protein

Protein identifiers

D-lactate dehydrogenase, mitochondrial — Q86WU2 (reviewed: Q86WU2)

All UniProt accessions (2): Q86WU2, H3BM70

UniProt curated annotations — full annotation on UniProt →

Function. The mitochondrial D-lactate dehydrogenase is a stereoselective dehydrogenase that targets a wide variety of D-2-hydroxyacids, particularly those with small to moderately sized hydrophobic groups attached to the C2 atom. It includes D-lactate which is generated in small amounts either endogenously through the methylglyoxal metabolism pathway or exogenously via intestinal bacterial activity and dietary intake. The dehydrogenase acts specifically on D-lactate, not on its stereoisomer L-lactate, and prevents the toxic accumulation of D-lactate in the organism. By converting branched-chain D-2-hydroxyacids into branched-chain ketoacids, it may indirectly regulate branched-chain amino acid metabolism.

Subunit / interactions. Could form homooligomers. Interacts with CSRP3.

Subcellular location. Mitochondrion.

Tissue specificity. Expressed moderately in heart and liver and at lower levels in skeletal muscle and kidney.

Disease relevance. D-lactic aciduria with gout (DLACD) [MIM:245450] An autosomal recessive metabolic disorder characterized by D-lactic aciduria in the presence of normal plasma lactic acid. The disease is caused by variants affecting the gene represented in this entry.

Activity regulation. Inhibited by oxalate.

Similarity. Belongs to the FAD-binding oxidoreductase/transferase type 4 family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q86WU2-1	1, hDLDH-1	yes
Q86WU2-2	2, hDLDH-2

RefSeq proteins (2): NP_705690, NP_919417* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR004113	FAD-bd_oxidored_4_C	Domain
IPR006094	Oxid_FAD_bind_N	Domain
IPR016164	FAD-linked_Oxase-like_C	Homologous_superfamily
IPR016166	FAD-bd_PCMH	Domain
IPR016167	FAD-bd_PCMH_sub1	Homologous_superfamily
IPR016169	FAD-bd_PCMH_sub2	Homologous_superfamily
IPR016171	Vanillyl_alc_oxidase_C-sub2	Homologous_superfamily
IPR036318	FAD-bd_PCMH-like_sf	Homologous_superfamily

Pfam: PF01565, PF02913

Enzyme classification (BRENDA):

• EC 1.1.2.4 — D-lactate dehydrogenase (cytochrome) (BRENDA: 11 organisms, 45 substrates, 17 inhibitors, 26 Km, 11 kcat entries)

Substrate kinetics (BRENDA)

10 substrates with measured Km, best-characterized 10. Km ranges are aggregated across organisms/conditions.

Substrate	Km (mM)	Measurements
D-LACTATE	0.0026–26	9
D-2-HYDROXYBUTYRATE	0.011–1.4	5
(R)-LACTATE	0.0414–0.264	3
CYTOCHROME C	0.0054	2
D-2-HYDROXYVALERATE	2.5	1
D-GLYCERATE	8.871	1
FERRICYANIDE	0.23	1
GLYCOLATE	0.432	1
L-LACTATE	4.486	1
OXIDIZED PHENAZINE METHOSULFATE	4.45	1

Catalyzed reactions (Rhea), 10 shown:

• (R)-lactate + FAD + H(+) = FADH2 + pyruvate (RHEA:82479)
• (2R)-hydroxybutanoate + FAD + H(+) = 2-oxobutanoate + FADH2 (RHEA:82483)
• (2R)-hydroxypentanoate + FAD + H(+) = 2-oxopentanoate + FADH2 (RHEA:82487)
• (2R)-hydroxyhexanoate + FAD + H(+) = 2-oxohexanoate + FADH2 (RHEA:82491)
• (2R)-hydroxyoctanoate + FAD + H(+) = 2-oxooctanoate + FADH2 (RHEA:82495)
• (2R)-hydroxy-4-methylpentanoate + FAD + H(+) = 4-methyl-2-oxopentanoate + FADH2 (RHEA:82499)
• (2R)-hydroxy-3-methylpentanoate + FAD + H(+) = 3-methyl-2-oxopentanoate + FADH2 (RHEA:82503)
• (R)-3-phenyllactate + FAD + H(+) = 3-phenylpyruvate + FADH2 (RHEA:82507)
• a (2R)-2-hydroxycarboxylate + FAD + H(+) = a 2-oxocarboxylate + FADH2 (RHEA:82511)
• (R)-2-hydroxy-3-methylbutanoate + FAD + H(+) = 3-methyl-2-oxobutanoate + FADH2 (RHEA:84927)

UniProt features (36 total): binding site 21, modified residue 6, sequence variant 3, transit peptide 1, chain 1, domain 1, active site 1, splice variant 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q86WU2-F1	89.11	0.85

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Catalytic / active sites (1): 466 (proton acceptor)

Ligand- & substrate-binding residues (21): 159; 170; 173; 249; 255; 370; 370; 421; 421; 428; 465; 465 …

Post-translational modifications (6): 36, 315, 358, 358, 445, 472

Function

Pathways and Gene Ontology

Reactome pathways

4 pathways

ID	Pathway
R-HSA-1268020	Mitochondrial protein import
R-HSA-9837999	Mitochondrial protein degradation
R-HSA-392499	Metabolism of proteins
R-HSA-9609507	Protein localization

MSigDB gene sets: 90 (showing top): GOBP_MONOCARBOXYLIC_ACID_METABOLIC_PROCESS, GGGTGGRR_PAX4_03, GOBP_ORGANIC_ACID_CATABOLIC_PROCESS, GOCC_MITOCHONDRIAL_ENVELOPE, GOBP_ORGANIC_ACID_METABOLIC_PROCESS, GOBP_SMALL_MOLECULE_CATABOLIC_PROCESS, GOMF_OXIDOREDUCTASE_ACTIVITY_ACTING_ON_CH_OH_GROUP_OF_DONORS, GOBP_MONOCARBOXYLIC_ACID_CATABOLIC_PROCESS, CHIANG_LIVER_CANCER_SUBCLASS_PROLIFERATION_DN, GAVIN_FOXP3_TARGETS_CLUSTER_P2, GOCC_ORGANELLE_INNER_MEMBRANE, GCCNNNWTAAR_UNKNOWN, GOMF_FAD_BINDING, GOMF_FLAVIN_ADENINE_DINUCLEOTIDE_BINDING, GOCC_ORGANELLE_ENVELOPE

GO Biological Process (1): lactate catabolic process (GO:1903457)

GO Molecular Function (11): lactate dehydrogenase activity (GO:0004457), D-lactate dehydrogenase (cytochrome) activity (GO:0004458), D-lactate dehydrogenase (NAD+) activity (GO:0008720), flavin adenine dinucleotide binding (GO:0050660), FAD binding (GO:0071949), D-lactate dehydrogenase (FAD) activity (GO:0140170), (2R)-2-hydroxycarboxylate dehydrogenase activity (GO:0140174), catalytic activity (GO:0003824), protein binding (GO:0005515), oxidoreductase activity (GO:0016491), oxidoreductase activity, acting on CH-OH group of donors (GO:0016614)

GO Cellular Component (2): mitochondrion (GO:0005739), mitochondrial inner membrane (GO:0005743)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
Protein localization	1
Metabolism of proteins	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
D-lactate dehydrogenase activity	3
lactate metabolic process	1
monocarboxylic acid catabolic process	1
oxidoreductase activity, acting on CH-OH group of donors	1
oxidoreductase activity, acting on the CH-OH group of donors, cytochrome as acceptor	1
(2R)-2-hydroxyacid dehydrogenase (NAD+) activity	1
nucleotide binding	1
anion binding	1
flavin adenine dinucleotide binding	1
(2R)-oxo-acid reductase activity	1
molecular_function	1
binding	1
catalytic activity	1
oxidoreductase activity	1
cytoplasm	1
intracellular membrane-bounded organelle	1
organelle inner membrane	1
mitochondrial membrane	1

Protein interactions and networks

STRING

1818 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
LDHD	LDHAL6B	Q9BYZ2	668
LDHD	DLD	P09622	514
LDHD	LDHC	P07864	501
LDHD	MRPL55	Q7Z7F7	464
LDHD	LDHA	P00338	461
LDHD	IDNK	Q5T6J7	431
LDHD	ENO4	A6NNW6	402
LDHD	HAO1	Q9UJM8	400
LDHD	LDHAL6A	Q6ZMR3	396
LDHD	H6PD	O95479	380
LDHD	PDK3	Q15120	378
LDHD	SPX	Q9BT56	373
LDHD	MDH2	P40926	365
LDHD	PDHB	P11177	359
LDHD	TRIT1	Q9H3H1	352

IntAct

4 interactions, top by confidence:

A	B	Type	Score
LDHD	METTL8	psi-mi:“MI:0914”(association)	0.350
LDHD	ACOT2	psi-mi:“MI:0914”(association)	0.350
ZNF577	DDI2	psi-mi:“MI:0914”(association)	0.350

BioGRID (48): MARK2 (Affinity Capture-MS), MYH4 (Affinity Capture-MS), POLRMT (Affinity Capture-MS), RPL30 (Affinity Capture-MS), SPAG1 (Affinity Capture-MS), TCEB2 (Affinity Capture-MS), VRK2 (Affinity Capture-MS), ZKSCAN1 (Affinity Capture-MS), ZW10 (Affinity Capture-MS), CNOT8 (Affinity Capture-MS), SMNDC1 (Affinity Capture-MS), CEP164 (Affinity Capture-MS), DHX30 (Affinity Capture-MS), FBXO28 (Affinity Capture-MS), NIPBL (Affinity Capture-MS)

ESM2 similar proteins: A1L258, B5DEQ3, B7ZMP1, B8B7X6, D4AAT7, F1QXM5, O00116, O04015, O04226, O23240, O45218, O46504, O65361, P31754, P32232, P32296, P46681, P52624, P54887, P54888, P84850, P87228, P97275, Q01415, Q1JPD3, Q3KRD0, Q5M7W7, Q5R6J8, Q5R824, Q68FH4, Q6PI48, Q7TNG8, Q7TSQ8, Q7XI14, Q86WU2, Q8BIP0, Q8C0I1, Q8CIM3, Q8IW45, Q8NCN5

Diamond homologs: A0A0H3KZS3, B9ZUK6, F1QXM5, P56216, Q86WU2, A4VGK4, B8B7X6, B8DE89, C1L2X6, D4MUV9, E9F5F1, H6LBS1, O29853, P0AEP9, P0AEQ0, P0DV35, P46681, P52073, P94535, P9WEY2, P9WIT0, P9WIT1, P9WJF0, P9WJF1, Q46911, Q46I41, Q71ZQ0, Q7TNG8, Q8X7S0, Q8Y776, Q94AX4, P32891, Q12627, Q1JPD3, Q8N465, A0R607, A1L258, O23240, Q5HQZ1, Q631P8

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

120 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	5
Likely pathogenic	3
Uncertain significance	88
Likely benign	5
Benign	9

Top pathogenic / likely-pathogenic (8)

Variant ID	HGVS	Classification
3381191	NM_194436.3(LDHD):c.206T>C (p.Val69Ala)	Pathogenic
3381192	NM_194436.3(LDHD):c.683C>T (p.Thr228Met)	Pathogenic
3381193	NM_194436.3(LDHD):c.469+1dup	Pathogenic
3381194	NM_194436.3(LDHD):c.1294dup (p.Ala432fs)	Pathogenic
872931	NM_194436.3(LDHD):c.1039C>T (p.Arg347Trp)	Pathogenic
3376153	NM_194436.3(LDHD):c.561_562del (p.Leu188fs)	Likely pathogenic
586968	NM_194436.3(LDHD):c.1053G>T (p.Trp351Cys)	Likely pathogenic
586969	NM_194436.3(LDHD):c.1319C>T (p.Thr440Met)	Likely pathogenic

SpliceAI

1959 predictions. Top by Δscore:

Variant	Effect	Δscore
16:75112517:CCCGC:C	acceptor_gain	1.0000
16:75112518:CCGC:C	acceptor_gain	1.0000
16:75112518:CCGCC:C	acceptor_gain	1.0000
16:75112519:CGC:C	acceptor_gain	1.0000
16:75112519:CGCC:C	acceptor_gain	1.0000
16:75112522:C:CA	acceptor_loss	1.0000
16:75112522:C:CC	acceptor_gain	1.0000
16:75112710:CTTC:C	acceptor_gain	1.0000
16:75112712:TCCTG:T	acceptor_loss	1.0000
16:75112713:CCTGG:C	acceptor_loss	1.0000
16:75112715:T:A	acceptor_loss	1.0000
16:75112831:AAC:A	donor_loss	1.0000
16:75112832:ACC:A	donor_loss	1.0000
16:75112833:C:CG	donor_loss	1.0000
16:75112841:T:TA	donor_gain	1.0000
16:75112920:TAGCC:T	acceptor_gain	1.0000
16:75112922:GCC:G	acceptor_gain	1.0000
16:75112923:CC:C	acceptor_gain	1.0000
16:75112923:CCC:C	acceptor_gain	1.0000
16:75112924:CC:C	acceptor_gain	1.0000
16:75112924:CCTGG:C	acceptor_loss	1.0000
16:75112925:C:CC	acceptor_gain	1.0000
16:75112925:C:T	acceptor_gain	1.0000
16:75112925:CTGGT:C	acceptor_loss	1.0000
16:75112926:T:A	acceptor_loss	1.0000
16:75113658:CTCCT:C	acceptor_gain	1.0000
16:75113661:CT:C	acceptor_gain	1.0000
16:75113663:C:CC	acceptor_gain	1.0000
16:75113736:GCATA:G	donor_loss	1.0000
16:75113737:CATAC:C	donor_loss	1.0000

AlphaMissense

3110 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
16:75112486:T:A	E465V	0.990
16:75112374:A:C	N502K	0.989
16:75112374:A:T	N502K	0.989
16:75112678:G:C	H428D	0.988
16:75112912:C:G	D390H	0.988
16:75112404:C:A	K492N	0.987
16:75112404:C:G	K492N	0.987
16:75112701:C:T	G420E	0.987
16:75112697:A:C	H421Q	0.986
16:75112697:A:T	H421Q	0.986
16:75113971:C:G	R298P	0.986
16:75115240:G:C	F95L	0.986
16:75115240:G:T	F95L	0.986
16:75115242:A:G	F95L	0.986
16:75112910:A:C	D390E	0.985
16:75112910:A:T	D390E	0.985
16:75112911:T:A	D390V	0.985
16:75114635:C:A	G174W	0.985
16:75114834:A:C	F154L	0.985
16:75114834:A:T	F154L	0.985
16:75114836:A:G	F154L	0.985
16:75112464:C:A	K472N	0.984
16:75112464:C:G	K472N	0.984
16:75112682:G:C	N426K	0.984
16:75112682:G:T	N426K	0.984
16:75114835:A:G	F154S	0.984
16:75112699:G:C	H421D	0.983
16:75112904:A:C	C392W	0.983
16:75113589:C:A	W367C	0.983
16:75113589:C:G	W367C	0.983

dbSNP variants (sampled 300 via entrez): RS1000467084 (16:75118600 C>T), RS1000584335 (16:75117595 G>A,C), RS1000993720 (16:75113082 C>T), RS1002000786 (16:75112125 C>A,T), RS1002053315 (16:75111905 G>A), RS1002362282 (16:75117721 CT>C), RS1003608245 (16:75111364 C>T), RS1004165810 (16:75112151 T>C), RS1004417982 (16:75117967 G>A), RS1004517397 (16:75112323 A>G), RS1004606674 (16:75115640 G>A,C), RS1005612411 (16:75114508 C>A,T), RS1005667882 (16:75114215 T>C), RS1005860436 (16:75111383 G>A,T), RS1006270073 (16:75114474 C>T)

Disease associations

OMIM: gene MIM:607490 | disease phenotypes: MIM:245450

GenCC curated gene-disease

Mondo (1): lactic aciduria due to D-lactic acid (MONDO:0009505)

Orphanet (0):

HPO phenotypes

8 total (8 of 8 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000023	Inguinal hernia
HP:0000252	Microcephaly
HP:0000494	Downslanted palpebral fissures
HP:0000526	Aniridia
HP:0001249	Intellectual disability
HP:0003648	Lacticaciduria
HP:6000467	Elevated urine D-lactate level

GWAS associations

9 associations (top):

Study	Trait	p-value
GCST002018_1	Crohn’s disease (time to surgery)	9.000000e-06
GCST002553_10	Pancreatic cancer	1.000000e-10
GCST006190_3	Diastolic blood pressure x smoking status (ever vs never) interaction (2df test)	7.000000e-08
GCST006192_51	Systolic blood pressure x smoking status (ever vs never) interaction (2df test)	1.000000e-12
GCST006192_74	Systolic blood pressure x smoking status (ever vs never) interaction (2df test)	1.000000e-18
GCST006193_36	Diastolic blood pressure x smoking status (current vs non-current) interaction (2df test)	2.000000e-07
GCST006195_18	Systolic blood pressure x smoking status (current vs non-current) interaction (2df test)	2.000000e-12
GCST006195_68	Systolic blood pressure x smoking status (current vs non-current) interaction (2df test)	2.000000e-18
GCST006195_80	Systolic blood pressure x smoking status (current vs non-current) interaction (2df test)	4.000000e-06

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0006336	diastolic blood pressure
EFO:0006527	smoking status measurement
EFO:0006335	systolic blood pressure

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
C565446	Lactic Aciduria due to D-Lactic Acid (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

42 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	affects methylation, decreases expression	5
Aflatoxin B1	affects expression, decreases expression	3
entinostat	increases expression, affects cotreatment	2
Panobinostat	affects cotreatment, increases expression	2
Acetaminophen	decreases expression, increases expression	2
Cisplatin	affects cotreatment, increases expression, affects expression	2
Nickel	decreases expression	2
Valproic Acid	increases expression, increases methylation	2
Cyclosporine	decreases expression	2
Cadmium Chloride	decreases expression, increases abundance, increases expression	2
bisphenol F	increases expression	1
dicrotophos	decreases expression	1
oxybenzone	increases methylation	1
triphenyl phosphate	affects expression	1
2,5,2’,5’-tetrachlorobiphenyl	increases expression	1
ethyl-p-hydroxybenzoate	decreases expression	1
tris(2-butoxyethyl) phosphate	affects expression	1
sulforaphane	decreases expression	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
perfluoro-n-nonanoic acid	decreases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
abrine	decreases expression	1
dorsomorphin	affects cotreatment, increases expression	1
jinfukang	affects cotreatment, increases expression	1
Decitabine	affects expression	1
Sunitinib	decreases expression	1
Leflunomide	decreases expression	1
Cadmium	increases abundance, increases expression	1
Dactinomycin	increases expression	1
Diethylhexyl Phthalate	decreases expression, increases expression	1

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.