LDHAL6B

Summary

LDHAL6B (lactate dehydrogenase A like 6B, HGNC:21481) is a protein-coding gene on chromosome 15q22.2, encoding L-lactate dehydrogenase A-like 6B (Q9BYZ2).

Predicted to enable L-lactate dehydrogenase activity. Involved in lactate metabolic process. Located in cytoplasm.

Source: NCBI Gene 92483 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 100 total — 1 pathogenic
• MANE Select transcript: NM_033195

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:21481
Approved symbol	LDHAL6B
Name	lactate dehydrogenase A like 6B
Location	15q22.2
Locus type	gene with protein product
Status	Approved
Aliases	LDHL, LDH6B
Ensembl gene	ENSG00000171989
Ensembl biotype	protein_coding
Entrez	92483

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000307144

RefSeq mRNA: 1 — MANE Select: NM_033195 NM_033195

CCDS: CCDS10171

Canonical transcript exons

ENST00000307144 — 1 exons

Exon	Start	End
ENSE00001141625	59206843	59208588

Expression profiles

Bgee: expression breadth broad, 93 present calls, max score 89.05.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.1221 / max 126.7549, expressed in 4 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
146973	0.0741	4
146972	0.0358	3
146974	0.0103	3
207545	0.0019	2

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right testis	UBERON:0004534	89.05	gold quality
adult organism	UBERON:0007023	88.81	gold quality
left testis	UBERON:0004533	88.47	gold quality
testis	UBERON:0000473	86.56	gold quality
sperm	CL:0000019	85.63	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	84.47	gold quality
male germ cell	CL:0000015	83.59	gold quality
calcaneal tendon	UBERON:0003701	58.99	gold quality
corpus callosum	UBERON:0002336	55.15	gold quality
popliteal artery	UBERON:0002250	52.62	gold quality
tibial artery	UBERON:0007610	52.59	gold quality
tibialis anterior	UBERON:0001385	52.11	silver quality
tendon	UBERON:0000043	51.85	gold quality
aorta	UBERON:0000947	50.59	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	50.49	silver quality
deltoid	UBERON:0001476	50.08	gold quality
tonsil	UBERON:0002372	49.87	gold quality
rectum	UBERON:0001052	49.79	gold quality
Brodmann (1909) area 46	UBERON:0006483	49.30	gold quality
blood vessel layer	UBERON:0004797	49.29	gold quality
cervix squamous epithelium	UBERON:0006922	49.20	gold quality
hair follicle	UBERON:0002073	49.18	gold quality
quadriceps femoris	UBERON:0001377	49.10	gold quality
liver	UBERON:0002107	49.03	silver quality
olfactory bulb	UBERON:0002264	48.92	gold quality
choroid plexus epithelium	UBERON:0003911	48.89	gold quality
myocardium	UBERON:0002349	48.87	gold quality
type B pancreatic cell	CL:0000169	48.83	gold quality
epithelial cell of pancreas	CL:0000083	48.70	gold quality
cardiac muscle of right atrium	UBERON:0003379	48.55	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-MTAB-8060	no	28.38
E-ANND-3	no	1.61

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

29 targeting LDHAL6B, 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-5011-5P	100.00	83.46	5820
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-3065-5P	99.97	71.56	3281
HSA-MIR-95-5P	99.89	72.17	3973
HSA-MIR-221-3P	99.86	71.56	1329
HSA-MIR-222-3P	99.86	71.35	1337
HSA-MIR-6515-3P	99.82	68.19	1933
HSA-MIR-4729	99.69	72.18	4233
HSA-MIR-7152-5P	99.60	69.33	2094
HSA-MIR-7159-5P	99.53	72.12	2472
HSA-MIR-217-5P	99.49	69.93	1419
HSA-MIR-20A-3P	99.44	69.10	1575
HSA-MIR-297	99.40	69.58	1418
HSA-MIR-6828-5P	99.31	69.21	1433
HSA-MIR-410-3P	99.27	69.98	2457
HSA-MIR-7158-5P	99.25	67.95	796
HSA-MIR-6807-3P	99.15	69.23	1275
HSA-MIR-3124-3P	98.87	68.95	2123
HSA-MIR-3149	98.77	67.13	1639
HSA-MIR-4272	98.76	68.74	1810
HSA-MIR-219A-2-3P	98.62	68.78	797
HSA-MIR-374C-3P	98.47	67.93	451
HSA-MIR-4257	97.86	68.05	1190
HSA-MIR-634	97.74	67.11	818
HSA-MIR-7154-3P	97.65	65.02	985
HSA-MIR-5189-3P	97.52	66.33	487
HSA-MIR-4790-3P	96.63	67.08	806
HSA-MIR-191-5P	95.88	67.82	171
HSA-MIR-4785	88.53	62.71	63

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Ldhal6b	ENSMUSG00000101959
rattus_norvegicus	Ldhal6b	ENSRNOG00000062741

Paralogs (5): LDHB (ENSG00000111716), LDHA (ENSG00000134333), MDH2 (ENSG00000146701), LDHC (ENSG00000166796), LDHAL6A (ENSG00000166800)

Protein

Protein identifiers

L-lactate dehydrogenase A-like 6B — Q9BYZ2 (reviewed: Q9BYZ2)

All UniProt accessions (2): Q9BYZ2, A0A140VJM9

UniProt curated annotations — full annotation on UniProt →

Tissue specificity. Testis specific.

Pathway. Fermentation; pyruvate fermentation to lactate; (S)-lactate from pyruvate: step 1/1.

Similarity. Belongs to the LDH/MDH superfamily. LDH family.

RefSeq proteins (1): NP_149972* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001236	Lactate/malate_DH_N	Domain
IPR001557	L-lactate/malate_DH	Family
IPR011304	L-lactate_DH	Family
IPR015955	Lactate_DH/Glyco_Ohase_4_C	Homologous_superfamily
IPR018177	L-lactate_DH_AS	Active_site
IPR022383	Lactate/malate_DH_C	Domain
IPR036291	NAD(P)-bd_dom_sf	Homologous_superfamily

Pfam: PF00056, PF02866

Catalyzed reactions (Rhea), 1 shown:

• (S)-lactate + NAD(+) = pyruvate + NADH + H(+) (RHEA:23444)

UniProt features (13 total): binding site 7, sequence variant 4, chain 1, active site 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9BYZ2-F1	88.68	0.79

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): 242 (proton acceptor)

Ligand- & substrate-binding residues (7): 101–106; 148; 155; 187; 187; 218; 297

Function

Pathways and Gene Ontology

Reactome pathways

3 pathways

ID	Pathway
R-HSA-70268	Pyruvate metabolism
R-HSA-1428517	Aerobic respiration and respiratory electron transport
R-HSA-1430728	Metabolism

MSigDB gene sets: 68 (showing top): KEGG_CYSTEINE_AND_METHIONINE_METABOLISM, KEGG_GLYCOLYSIS_GLUCONEOGENESIS, GOBP_MONOCARBOXYLIC_ACID_METABOLIC_PROCESS, GOBP_ORGANIC_ACID_BIOSYNTHETIC_PROCESS, GOBP_SMALL_MOLECULE_BIOSYNTHETIC_PROCESS, GOBP_ORGANIC_ACID_CATABOLIC_PROCESS, GOBP_MONOCARBOXYLIC_ACID_BIOSYNTHETIC_PROCESS, 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, GOBP_PYRUVATE_METABOLIC_PROCESS, IVANOVA_HEMATOPOIESIS_STEM_CELL_LONG_TERM, TGGAAA_NFAT_Q4_01, GOCC_OXIDOREDUCTASE_COMPLEX

GO Biological Process (4): lactate metabolic process (GO:0006089), pyruvate fermentation to lactate (GO:0019244), pyruvate catabolic process (GO:0042867), carboxylic acid metabolic process (GO:0019752)

GO Molecular Function (5): L-lactate dehydrogenase (NAD+) activity (GO:0004459), catalytic activity (GO:0003824), protein binding (GO:0005515), oxidoreductase activity (GO:0016491), oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)

GO Cellular Component (5): nucleus (GO:0005634), cytoplasm (GO:0005737), mitochondrion (GO:0005739), mitochondrial matrix (GO:0005759), oxidoreductase complex (GO:1990204)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
Aerobic respiration and respiratory electron transport	1
Metabolism	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
intracellular membrane-bounded organelle	2
monocarboxylic acid metabolic process	1
lactate metabolic process	1
pyruvate fermentation	1
pyruvate metabolic process	1
monocarboxylic acid catabolic process	1
oxoacid metabolic process	1
L-2-hydroxycarboxylate dehydrogenase (NAD+) activity	1
L-lactate dehydrogenase activity	1
molecular_function	1
binding	1
catalytic activity	1
oxidoreductase activity, acting on CH-OH group of donors	1
intracellular anatomical structure	1
cellular anatomical structure	1
cytoplasm	1
mitochondrion	1
intracellular organelle lumen	1
catalytic complex	1

Protein interactions and networks

STRING

3004 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
LDHAL6B	PKLR	P11973	769
LDHAL6B	GOT1L1	Q8NHS2	754
LDHAL6B	CKMT1B	P12532	732
LDHAL6B	CS	O75390	732
LDHAL6B	CKMT2	P17540	732
LDHAL6B	CKB	P12277	713
LDHAL6B	PKM	P14618	704
LDHAL6B	GOT1	P17174	702
LDHAL6B	CKM	P06732	684
LDHAL6B	GAPDH	P00354	669
LDHAL6B	LDHD	Q86WU2	668
LDHAL6B	GGT6	Q6P531	635
LDHAL6B	ALPG	P10696	627
LDHAL6B	GGT7	Q9UJ14	626
LDHAL6B	H6PD	O95479	624

IntAct

104 interactions, top by confidence:

A	B	Type	Score
LDHAL6B	APOE	psi-mi:“MI:0915”(physical association)	0.560
LDHAL6B	APP	psi-mi:“MI:0915”(physical association)	0.560
LDHAL6B	DCTN1	psi-mi:“MI:0915”(physical association)	0.560
LDHAL6B		psi-mi:“MI:0915”(physical association)	0.560
PRKN	LDHAL6B	psi-mi:“MI:0915”(physical association)	0.560
LDHAL6B	PMP22	psi-mi:“MI:0915”(physical association)	0.560
LDHAL6B	PSEN1	psi-mi:“MI:0915”(physical association)	0.560
LDHAL6B	UCHL1	psi-mi:“MI:0915”(physical association)	0.560
LDHAL6B	OPTN	psi-mi:“MI:0915”(physical association)	0.560
LDHAL6B	NDRG1	psi-mi:“MI:0915”(physical association)	0.560
LDHAL6B	PARK7	psi-mi:“MI:0915”(physical association)	0.560
LDHAL6B	TDP1	psi-mi:“MI:0915”(physical association)	0.560
LDHAL6B	PINK1	psi-mi:“MI:0915”(physical association)	0.560
SOD1	LDHAL6B	psi-mi:“MI:0915”(physical association)	0.560
APP	LDHAL6B	psi-mi:“MI:0915”(physical association)	0.560
SNCA	LDHAL6B	psi-mi:“MI:0915”(physical association)	0.560
HTT	LDHAL6B	psi-mi:“MI:0915”(physical association)	0.560
ATXN3	LDHAL6B	psi-mi:“MI:0915”(physical association)	0.560
ATXN1	LDHAL6B	psi-mi:“MI:0915”(physical association)	0.560
TARDBP	LDHAL6B	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (54): MTIF2 (Affinity Capture-MS), HSPA5 (Affinity Capture-MS), APBB2 (Affinity Capture-MS), ABAT (Co-fractionation), ALDH4A1 (Co-fractionation), ARF4 (Co-fractionation), ARF5 (Co-fractionation), LDHAL6B (Co-fractionation), LDHAL6B (Co-fractionation), LDHAL6B (Co-fractionation), LDHAL6B (Co-fractionation), LDHAL6B (Co-fractionation), LDHAL6B (Co-fractionation), MDH1 (Co-fractionation), SORD (Co-fractionation)

ESM2 similar proteins: A0JNU3, A1L1F1, A2AIL4, A4IHH4, A4QP75, B3MGZ0, B4GGT6, F6ZFR0, O00746, O08776, O55137, O55171, O88202, O88267, P36776, P49753, P87355, Q28CM7, Q32LB9, Q330K2, Q3B8B2, Q3T056, Q4R816, Q4VK78, Q566Y1, Q58DL1, Q59HJ6, Q5EBA1, Q5RJV0, Q6DFN1, Q80YD1, Q810S1, Q86U10, Q8BWN8, Q8CGK3, Q8HY87, Q8NC60, Q924S5, Q96BQ1, Q99KK9

Diamond homologs: A0A1F3, A5A6N7, A5I1Z6, A7FU32, B1L1N3, C1FMZ1, O13276, O13277, O13278, O93401, O93537, O93538, O93539, O93540, O93541, O93542, O93543, O93544, O93545, O93546, P00336, P00337, P00338, P00339, P00340, P00341, P00342, P04642, P06151, P07195, P07864, P13490, P13491, P13743, P16125, P19629, P19858, P20373, P22988, P22989

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 27 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

GO biological processes:

GO term	Partners	Fold	FDR
adult locomotory behavior	5	55.7×	1e-05
negative regulation of neuron apoptotic process	6	24.6×	2e-05
negative regulation of gene expression	7	17.9×	2e-05
response to xenobiotic stimulus	5	12.8×	1e-03
positive regulation of apoptotic process	5	10.5×	2e-03
positive regulation of gene expression	5	7.2×	6e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	93
Likely benign	4
Benign	1

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
4075935	GRCh37/hg19 15q22.2(chr15:59452443-59517497)x1	Pathogenic

SpliceAI

416 predictions. Top by Δscore:

Variant	Effect	Δscore
15:59207900:T:TA	donor_gain	0.8800
15:59206852:AAGGT:A	donor_gain	0.8700
15:59207385:C:CT	acceptor_gain	0.8000
15:59207386:A:T	acceptor_gain	0.7800
15:59206856:T:TA	donor_gain	0.7700
15:59207127:T:TA	donor_gain	0.7100
15:59207908:C:CT	donor_gain	0.6900
15:59207919:AAGGG:A	donor_gain	0.6800
15:59207297:TTTC:T	acceptor_gain	0.6700
15:59207759:TGA:T	acceptor_gain	0.6300
15:59207760:GAG:G	acceptor_gain	0.6300
15:59207298:T:G	acceptor_gain	0.6000
15:59207761:AGC:A	acceptor_gain	0.5900
15:59207605:T:A	acceptor_gain	0.5800
15:59207869:A:T	donor_gain	0.5800
15:59207832:T:TA	donor_gain	0.5700
15:59207232:G:A	donor_gain	0.5300
15:59207382:C:CT	acceptor_gain	0.5300
15:59206973:C:A	acceptor_gain	0.5100
15:59207517:A:C	donor_gain	0.5100
15:59207773:ATGTC:A	acceptor_gain	0.5100
15:59207808:ATTAT:A	acceptor_gain	0.5100
15:59207809:TTATT:T	acceptor_gain	0.5100
15:59207972:G:GT	acceptor_gain	0.5100
15:59208054:CTCTG:C	acceptor_gain	0.5100
15:59207609:T:TA	acceptor_gain	0.5000
15:59208053:ACTCT:A	acceptor_gain	0.5000
15:59208060:GAAAT:G	acceptor_gain	0.5000
15:59207057:CG:C	donor_gain	0.4900
15:59207058:GG:G	donor_gain	0.4900

AlphaMissense

2520 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
15:59207955:A:C	S339R	0.981
15:59207957:T:A	S339R	0.981
15:59207957:T:G	S339R	0.981
15:59207281:T:C	L114P	0.969
15:59207845:G:A	G302D	0.966
15:59207469:A:C	S177R	0.965
15:59207471:C:A	S177R	0.965
15:59207471:C:G	S177R	0.965
15:59207568:A:C	S210R	0.964
15:59207570:C:A	S210R	0.964
15:59207570:C:G	S210R	0.964
15:59207688:T:A	W250R	0.958
15:59207688:T:C	W250R	0.958
15:59207821:A:T	K294I	0.958
15:59207190:T:C	C84R	0.954
15:59207566:G:A	G209E	0.953
15:59207844:G:C	G302R	0.948
15:59207182:G:A	G81D	0.940
15:59207835:T:A	W299R	0.938
15:59207835:T:C	W299R	0.938
15:59207871:A:C	S311R	0.937
15:59207873:T:A	S311R	0.937
15:59207873:T:G	S311R	0.937
15:59207905:T:A	V322D	0.937
15:59207199:A:C	S87R	0.934
15:59207201:C:A	S87R	0.934
15:59207201:C:G	S87R	0.934
15:59207494:T:A	V185D	0.934
15:59207593:G:C	R218P	0.933
15:59208034:T:C	L365P	0.933

dbSNP variants (sampled 300 via entrez): RS1000166152 (15:59206524 C>G), RS1001944579 (15:59208577 G>A,C,T), RS1003743217 (15:59204864 G>A,C), RS1004815756 (15:59205469 T>C), RS1006941683 (15:59208866 G>A,T), RS1008597360 (15:59206834 A>C,G,T), RS1008621784 (15:59205536 T>C), RS1009747981 (15:59206090 T>C), RS1013451310 (15:59208774 C>T), RS1015484228 (15:59208609 G>A,C,T), RS1017572593 (15:59205241 C>G,T), RS1018595989 (15:59205831 C>A), RS1018621118 (15:59205551 T>C), RS1022550763 (15:59205908 T>C), RS1026940905 (15:59208626 A>G)

Disease associations

OMIM: gene `` | disease phenotypes: MIM:614131

GenCC curated gene-disease

Mondo (1): focal segmental glomerulosclerosis 6 (MONDO:0013589)

Orphanet (1): Hereditary steroid-resistant nephrotic syndrome (Orphanet:656)

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

10 total (human), top 10 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
bismuth tripotassium dicitrate	increases expression	1
S-(1,2-dichlorovinyl)cysteine	affects response to substance, increases expression, affects cotreatment	1
CGP 52608	affects binding, increases reaction	1
theaflavin-3,3’-digallate	affects expression	1
Sunitinib	increases expression	1
Air Pollutants	decreases expression, increases abundance	1
Lipopolysaccharides	affects response to substance, increases expression, affects cotreatment	1
Thiram	increases expression	1
Copper Sulfate	increases expression	1
Particulate Matter	decreases expression, increases abundance	1

Clinical trials (associated diseases)

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