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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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SLC25A44
solute carrier family 25 member 44
Chromosome 1 · 1q22
NCBI Gene: 9673Ensembl: ENSG00000160785.14HGNC: HGNC:29036UniProt: E9PGQ0
23PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transporter
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
mitochondrionbranched-chain amino acid catabolic processregulation of cold-induced thermogenesisbranched-chain amino acid transmembrane transporter activityrenal carcinomaTesticular Germ Cell TumorstrokeAbnormality of the skeletal system
✦AI Summary

SLC25A44 is a mitochondrial solute carrier that mediates branched-chain amino acid (BCAA; valine, leucine, and isoleucine) transport into mitochondria, with primary functional roles in brown adipose tissue (BAT) and systemic metabolic homeostasis 1. In BAT, SLC25A44 facilitates BCAA catabolism for thermogenesis during cold exposure and promotes systemic BCAA clearance, thereby controlling energy expenditure and glucose homeostasis 1. Loss of SLC25A44-mediated BCAA transport impairs BAT thermogenesis and systemic BCAA clearance, leading to diet-induced obesity and glucose intolerance 1. Beyond BAT, SLC25A44 appears to function as a housekeeping gene involved in secondary metabolite and ubiquinone transport, suggesting broader mitochondrial-ER-nucleus signaling roles 2. SLC25A44 has been genetically associated with multiple cerebrovascular and neurological diseases: common variants at the 1q22 locus associate with lacunar stroke and intracerebral hemorrhage [PMID:33773637; 3; 41], while genome-wide association studies identify SLC25A44 as associated with late-life memory decline 5. In pancreatic cancer, SLC25A44 expression correlates with favorable prognosis and immune infiltration, suggesting roles in tumor energy metabolism 6. In skeletal muscle insulin resistance, SLC25A44 expression remains unaltered despite BCAA accumulation 7, indicating tissue-specific regulatory mechanisms.

Sources cited
1
SLC25A44 transports BCAAs into mitochondria in brown adipose tissue for thermogenesis and systemic BCAA clearance; deficiency impairs thermogenesis and causes obesity and glucose intolerance
PMID: 31435015
2
SLC25A44-PMF1-BGLAP locus associates with lacunar stroke in multi-trait analysis with white matter hyperintensities; SLC25A44 identified in transcriptome-wide association with lacunar stroke
PMID: 33773637
3
PMF1/SLC25A44 variants are promising candidates for genetic risk factors in intracerebral hemorrhage
PMID: 26670299
4
SLC25A44 is at the 1q22 locus associated with non-lobar intracerebral hemorrhage and cerebral small vessel disease
PMID: 37787451
5
SLC25A44 is identified as a novel gene associated with memory decline in genome-wide association studies
PMID: 37985223
6
SLC25A44 is involved in pancreatic cancer energy metabolism and immune infiltration, serving as a favorable prognostic marker
PMID: 36514121
7
SLC25A44 is an essential housekeeping gene involved in energy metabolism and secondary metabolite/ubiquinone transport with roles in mitochondrial-ER-nucleus signaling
PMID: 34073512
8
SLC25A44 expression in skeletal muscle is unchanged in insulin resistance models despite BCAA accumulation
PMID: 37740788
Disease Associationsⓘ20
renal carcinomaOpen Targets
0.16Weak
Testicular Germ Cell TumorOpen Targets
0.12Weak
strokeOpen Targets
0.12Weak
Abnormality of the skeletal systemOpen Targets
0.10Suggestive
attention deficit hyperactivity disorderOpen Targets
0.09Suggestive
connective tissue neoplasmOpen Targets
0.08Suggestive
Parkinson diseaseOpen Targets
0.08Suggestive
type 1 diabetes mellitusOpen Targets
0.08Suggestive
exostosisOpen Targets
0.08Suggestive
ovarian neoplasmOpen Targets
0.08Suggestive
intellectual disability, autosomal recessive 59Open Targets
0.07Suggestive
hereditary attention deficit-hyperactivity disorderOpen Targets
0.07Suggestive
attention deficit-hyperactivity disorder 8Open Targets
0.07Suggestive
schizophrenia 15Open Targets
0.06Suggestive
major depressive disorderOpen Targets
0.06Suggestive
Alzheimer diseaseOpen Targets
0.06Suggestive
obsessive-compulsive disorderOpen Targets
0.06Suggestive
clear cell renal carcinomaOpen Targets
0.05Suggestive
Tourette syndromeOpen Targets
0.05Suggestive
autismOpen Targets
0.05Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
BCKDHAShared pathway100%DBTShared pathway100%IMPDH2Protein interaction81%PMF1Protein interaction65%BCKDHBShared pathway50%ALDH6A1Shared pathway50%
Tissue Expression6 tissues
Liver
100%
Brain
82%
Lung
53%
Bone Marrow
50%
Heart
46%
Ovary
25%
Gene Interaction Network
Click a node to explore
SLC25A44BCKDHADBTIMPDH2PMF1BCKDHBALDH6A1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q96H78
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.86LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.57 [0.39–0.86]
RankingsWhere SLC25A44 stands among ~20K protein-coding genes
  • #13,519of 20,598
    Most Researched23
  • #7,474of 17,882
    Most Constrained (LOEUF)0.86
Genes detectedSLC25A44
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
BCAA catabolism in brown fat controls energy homeostasis through SLC25A44.
PMID: 31435015
Nature · 2019
1.00
2
Genetic basis of lacunar stroke: a pooled analysis of individual patient data and genome-wide association studies.
PMID: 33773637
Lancet Neurol · 2021
0.90
3
Longitudinal change in memory performance as a strong endophenotype for Alzheimer's disease.
PMID: 37985223
Alzheimers Dement · 2024
0.80
4
Genetic risk factors for spontaneous intracerebral haemorrhage.
PMID: 26670299
Nat Rev Neurol · 2016
0.70
5
An extensive bioinformatics study on the role of mitochondrial solute carrier family 25 in PC and its mechanism behind affecting immune infiltration and tumor energy metabolism.
PMID: 36514121
J Transl Med · 2022
0.60