MPC1L

protein-coding

mitochondrial pyruvate carrier 1 like, the group of Solute carrier family 54, mitochondrial pyruvate carriers

Gene summary

Predicted to enable pyruvate transmembrane transporter activity. Involved in pyruvate import into mitochondria. Located in mitochondrial inner membrane. [provided by Alliance of Genome Resources, Jun 2026]

MANE transcript

NM_001195522.3

Inheritance

—

ClinVar variants

U:1B:1

Top phenotype

—

Max pathogenic AF

—

Genomic locus

chrX:40,623,428-40,624,136

External References & Databases

Ensembl (ENSG00000238205)

Transcript & Mutation Effects

hg38 • Region Span ~0.7 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 MPC1L variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 2

not providedTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001195522.3. 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			1 clinvar	1 clinvar		2
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	1	1	0	2

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 2 of 2 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001195522.3	RefSeq	NP_001182451.1	1	MANE Select
ENST00000423387.4	Ensembl	ENSP00000489748.1	1	MANE Select

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

mitochondrial pyruvate transmembrane transport

Molecular Function

pyruvate transmembrane transporter activity

Cellular Component

integral component of mitochondrial inner membrane

dbNSFP Gene Annotations

Source: dbNSFP