LDHAL6A

protein-coding

lactate dehydrogenase A like 6A

Gene summary

Enables L-lactate dehydrogenase (NAD+) activity. Predicted to be involved in lactate metabolic process and pyruvate catabolic process. Located in cytoplasm. [provided by Alliance of Genome Resources, Jun 2026]

MANE transcript

NM_144972.5

Inheritance

—

ClinVar variants

U:51B:1

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 1.06

Max pathogenic AF

—

Genomic locus

chr11:18,455,824-18,479,601

External References & Databases

Ensembl (ENSG00000166800)

Transcript & Mutation Effects

hg38 • Region Span ~23.8 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to LDHAL6A variants in ClinVar

1 Conditions Cataloged

not specifiedTotal: 49

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_144972.5. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous						0
missense			50 clinvar	1 clinvar		51
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			1 clinvar			1
Total	0	0	51	1	0	52

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 10 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_144972.5	RefSeq	NP_659409.2	7	MANE Select
ENST00000280706.3	Ensembl	ENSP00000280706.2	7	MANE Select
NM_001144071.2	RefSeq	NP_001137543.1	7	Standard
ENST00000396213.7	Ensembl	ENSP00000379516.3	7	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Pyruvate metabolism - Homo sapiens (human)
Glycolysis / Gluconeogenesis - Homo sapiens (human)
Propanoate metabolism - Homo sapiens (human)
Cysteine and methionine metabolism - Homo sapiens (human)
Glucagon signaling pathway - Homo sapiens (human)

Biological Process

carbohydrate metabolic process
carboxylic acid metabolic process
oxidation-reduction process

Molecular Function

L-lactate dehydrogenase activity

Cellular Component

cytoplasm
extracellular exosome

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000280706
Coding exons: 7
Length: 23777
Individuals with no LoFs: 125480
Homozygous LoFs: 0
Heterozygous LoFs: 259
Defined: 125739
p: 0.00103

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.272	170	180	0.943	0.00000900	2193
Missense (PolyPhen)		56	63.027	0.8885		885
Synonymous	-0.991	72	62.1	1.16	0.00000307	634
Loss of Function	-0.217	14	13.2	1.06	6.36e-7	168

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00049	0.00049	rare
Latino/Admixed American	0.0012	0.0012	notable
Ashkenazi Jewish	0.00060	0.00060	rare
East Asian	0.00011	0.00011	rare
Finnish	0.000093	0.000092	rare
European (Non-Finnish)	0.0016	0.0016	notable
South Asian	0.00053	0.00052	rare
Other	0.00050	0.00049	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Displays an lactate dehydrogenase activity. Significantly increases the transcriptional activity of JUN, when overexpressed. {ECO:0000269|PubMed:18351441}.;

Recessive Scores

pRec: 0.483

Intolerance Scores

LoFtool: 0.423
RVIS EVS: -0.23
RVIS percentile EVS: 37.32

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.796

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium