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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
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TMEM63A
transmembrane protein 63A
Chromosome 1 Β· 1q42.12
NCBI Gene: 9725Ensembl: ENSG00000196187.13HGNC: HGNC:29118UniProt: O94886
36PubMed Papers
21Diseases
0Drugs
9Pathogenic Variants
FUNCTIONAL ROLE
Ion ChannelTransporter
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
early endosome membranephospholipid scramblase activitylysosomal membraneplasma membraneleukodystrophyleukodystrophy, hypomyelinating, 19, transient infantilegenetic disorderneurodegenerative disease
✦AI Summary

TMEM63A encodes a mechanosensitive cation channel with high activation thresholds that functions as a critical regulator of respiratory and neurological homeostasis 1. The channel localizes to lamellar body and lysosomal membranes, where it mediates mechanosensitivity in response to mechanical stretch and osmotic stress 2. During lung inflation, TMEM63A activation in alveolar epithelial cells conducts cation currents that trigger lamellar body exocytosis and surfactant secretion, essential for the first breath and lifelong respiration 1. TMEM63A also functions in myelination as an oligodendrocyte-autonomous regulator; its presence at both plasma membrane and lysosomes modulates myelin production in response to mechanical cues 3. Structurally, TMEM63A exhibits a proteo-lipidic pore architecture where lipids participate in ion permeation, with a surface-proximal hydrophobic latch serving as a putative force-sensing module 4. Disease-associated mutations in TMEM63A cause infantile hypomyelinating leukodystrophy 19 (HLD19), characterized by reduced CNS white matter and neurological symptoms 3. Patient-derived variants impair membrane trafficking and function as loss-of-function mutations, leading to delayed oligodendrocyte differentiation and transient hypomyelination 5. Unlike TMEM63B, TMEM63A does not exhibit phospholipid scramblase activity 4.

Sources cited
1
TMEM63A mediates lung inflation-induced surfactant secretion through mechanosensitive channel activation at lamellar body membranes
PMID: 38127458
2
TMEM63A localizes to lysosomes and mediates lysosomal mechanosensitivity to modulate lysosomal morphology and function
PMID: 38388853
3
TMEM63A is an oligodendrocyte-autonomous regulator of myelination present at plasma membrane and lysosomes, with patient mutations impairing membrane trafficking
PMID: 40694323
4
TMEM63A contains a proteo-lipidic pore with a hydrophobic latch force-sensing module; disease mutations cause gain-of-function lipid scramblase activity
PMID: 40480214
5
TMEM63A loss-of-function mutations cause hypomyelination through impaired oligodendrocyte precursor cell differentiation via reduced Ca2+ influx
PMID: 39982638
Disease Associationsβ“˜21
leukodystrophyOpen Targets
0.66Moderate
leukodystrophy, hypomyelinating, 19, transient infantileOpen Targets
0.65Moderate
genetic disorderOpen Targets
0.19Weak
neurodegenerative diseaseOpen Targets
0.14Weak
Benign familial choreaOpen Targets
0.07Suggestive
Ataxia - oculomotor apraxia type 1Open Targets
0.05Suggestive
early-onset generalized limb-onset dystoniaOpen Targets
0.05Suggestive
spastic paraplegia 72b, autosomal recessiveOpen Targets
0.05Suggestive
Abnormality of the skeletal systemOpen Targets
0.04Suggestive
diffuse large B-cell lymphomaOpen Targets
0.03Suggestive
Alzheimer diseaseOpen Targets
0.02Suggestive
mixed connective tissue diseaseOpen Targets
0.02Suggestive
response to waterOpen Targets
0.02Suggestive
neuromaOpen Targets
0.02Suggestive
triple-negative breast cancerOpen Targets
0.02Suggestive
Global developmental delayOpen Targets
0.01Suggestive
ParkinsonismOpen Targets
0.01Suggestive
respiratory failureOpen Targets
0.01Suggestive
dementiaOpen Targets
0.01Suggestive
NystagmusOpen Targets
0.01Suggestive
Leukodystrophy, hypomyelinating, 19, transient infantileUniProt
Pathogenic Variants9
NM_014698.3(TMEM63A):c.1699G>A (p.Gly567Ser)Pathogenic
Leukodystrophy|Leukodystrophy, hypomyelinating, 19, transient infantile
β˜…β˜…β˜†β˜†2025β†’ Residue 567
NM_014698.3(TMEM63A):c.503G>A (p.Gly168Glu)Pathogenic
Leukodystrophy|Leukodystrophy, hypomyelinating, 19, transient infantile
β˜…β˜…β˜†β˜†2025β†’ Residue 168
NM_014698.3(TMEM63A):c.1699G>T (p.Gly567Cys)Likely pathogenic
Leukodystrophy, hypomyelinating, 19, transient infantile
β˜…β˜†β˜†β˜†2025β†’ Residue 567
NM_014698.3(TMEM63A):c.583del (p.Leu195fs)Likely pathogenic
Leukodystrophy, hypomyelinating, 19, transient infantile
β˜…β˜†β˜†β˜†2025β†’ Residue 195
NM_014698.3(TMEM63A):c.2066G>A (p.Arg689His)Likely pathogenic
Leukodystrophy, hypomyelinating, 19, transient infantile
β˜…β˜†β˜†β˜†2025β†’ Residue 689
NM_014698.3(TMEM63A):c.1657G>A (p.Gly553Ser)Likely pathogenic
Leukodystrophy, hypomyelinating, 19, transient infantile
β˜…β˜†β˜†β˜†2025β†’ Residue 553
NM_014698.3(TMEM63A):c.1658G>A (p.Gly553Asp)Likely pathogenic
Leukodystrophy, hypomyelinating, 19, transient infantile
β˜…β˜†β˜†β˜†2024β†’ Residue 553
NM_014698.3(TMEM63A):c.1385T>A (p.Ile462Asn)Pathogenic
Leukodystrophy|Leukodystrophy, hypomyelinating, 19, transient infantile
β˜…β˜†β˜†β˜†2019β†’ Residue 462
NM_014698.3(TMEM63A):c.1675T>C (p.Tyr559His)Pathogenic
Leukodystrophy, hypomyelinating, 19, transient infantile
β˜†β˜†β˜†β˜†2022β†’ Residue 559
View on ClinVar β†—
Related Genes
ANO10Shared pathway50%ZACNShared pathway40%ATP13A5Shared pathway40%ATP13A4Shared pathway40%ATP13A1Shared pathway40%TMC3Shared pathway33%
Tissue Expression6 tissues
Bone Marrow
100%
Liver
80%
Lung
71%
Ovary
64%
Heart
38%
Brain
35%
Gene Interaction Network
Click a node to explore
TMEM63AANO10ZACNATP13A5ATP13A4ATP13A1TMC3
PROTEIN STRUCTURE
Preparing viewer…
PDB9N93 Β· 2.95 Γ… Β· EM
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.84LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.69 [0.57–0.84]
RankingsWhere TMEM63A stands among ~20K protein-coding genes
  • #10,882of 20,598
    Most Researched36
  • #2,980of 5,498
    Most Pathogenic Variants9
  • #7,217of 17,882
    Most Constrained (LOEUF)0.84
Genes detectedTMEM63A
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Mechanosensitive channels TMEM63A and TMEM63B mediate lung inflation-induced surfactant secretion.
PMID: 38127458
J Clin Invest Β· 2024
1.00
2
TOLLIP-mediated autophagic degradation pathway links the VCP-TMEM63A-DERL1 signaling axis to triple-negative breast cancer progression.
PMID: 35920704
Autophagy Β· 2023
0.90
3
Structural and functional basis of mechanosensitive TMEM63 channelopathies.
PMID: 40480214
Neuron Β· 2025
0.80
4
Drosophila TMEM63 and mouse TMEM63A are lysosomal mechanosensory ion channels.
PMID: 38388853
Nat Cell Biol Β· 2024
0.70
5
TMEM63A, associated with hypomyelinating leukodystrophies, is an evolutionarily conserved regulator of myelination.
PMID: 40694323
Proc Natl Acad Sci U S A Β· 2025
0.60