solute carrier family 25 member 4
Annotations refreshed 1 month ago.
Diagnostic Grade (Green)
Congenital myopathy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownDDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownFetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedInherited white matter disorders
BOTH monoallelic and biallelic, autosomal or pseudoautosomalLikely inborn error of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalMitochondrial disorders
BOTH monoallelic and biallelic, autosomal or pseudoautosomalMitochondrial DNA maintenance disorder
BOTH monoallelic and biallelic, autosomal or pseudoautosomalPaediatric or syndromic cardiomyopathy
BOTH monoallelic and biallelic, autosomal or pseudoautosomal+7 more panels — install the extension to see the full list inline on any page.
mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive
mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant
progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2
Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy
neurodegenerative disease
mitochondrial disease
Fontaine progeroid syndrome
hypertrophic cardiomyopathy
hereditary disease
maternally-inherited progressive external ophthalmoplegia
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
ADP/ATP translocase 1
ADP:ATP antiporter that mediates import of ADP into the mitochondrial matrix for ATP synthesis, and export of ATP out to fuel the cell (PubMed:21586654, PubMed:27693233, PubMed:23173940, PubMed:30046662). Cycles between the cytoplasmic-open state (c-state) and the matrix-open state (m-state): operates by the alternating access mechanism with a single substrate-binding site intermittently exposed to either the cytosolic (c-state) or matrix (m-state) side of the inner mitochondrial membrane (By similarity). Substrate exchange across the membrane occurs consecutively with one substrate being transported first, then dissociating from the substrate binding site before the second substrate binds for transport in the opposite direction (PubMed:37278158). In addition to its ADP:ATP antiporter activity, also involved in mitochondrial uncoupling and mitochondrial permeability transition pore (mPTP) activity (PubMed:31883789). Plays a role in mitochondrial uncoupling by acting as a proton transporter: proton transport uncouples the proton flows via the electron transport chain and ATP synthase to reduce the efficiency of ATP production and cause mitochondrial thermogenesis (By similarity). Proton transporter activity is inhibited by ADP:ATP antiporter activity, suggesting that SLC25A4/ANT1 acts as a master regulator of mitochondrial energy output by maintaining a delicate balance between ATP production (ADP:ATP antiporter activity) and thermogenesis (proton transporter activity) (By similarity). Proton transporter activity requires free fatty acids as cofactor, but does not transport it (By similarity). Also plays a key role in mPTP opening, a non-specific pore that enables free passage of the mitochondrial membranes to solutes of up to 1.5 kDa, and which contributes to cell death (PubMed:31883789). It is however unclear if SLC25A4/ANT1 constitutes a pore-forming component of mPTP or regulates it (By similarity). Acts as a regulator of mitophagy independently of ADP:ATP antiporter activity: promotes mitophagy via interaction with TIMM44, leading to inhibit the presequence translocase TIMM23, thereby promoting stabilization of PINK1 (By similarity)
SLC25A4 · P12235
Mean pLDDT
92.1/ 100
Very high
298 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0
