TMEM63C

Chr 14q24.3

transmembrane protein 63C

Aliases:: DKFZp434P0111, CSC1, hsCSC1
MANE:: ENST00000298351.5

OMIM: 619953 ↗NCBI: 57156 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

TMEM63C · Q9P1W3

v62025-08-01

Predicted Aligned Error matrix for TMEM63C — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

74.3/ 100

Confident

806 residues

Confidence breakdown

Very high(≥ 90)31%
Confident(70–90)37%
Low(50–70)13%
Very low(< 50)19%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Childhood onset hereditary spastic paraplegia
BIALLELIC, autosomal or pseudoautosomal
DDG2P
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

spastic paraplegia 87, autosomal recessive
0.64
mathematical ability
0.40
leukemia
0.37
Abnormality of the immune system
0.24
hypertrophic cardiomyopathy
0.23
hereditary spastic paraplegia
0.19
biliary tract disorder
0.12
Meckel syndrome
0.05
Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus
0.05
cobblestone lissencephaly without muscular or ocular involvement
0.04

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Osmosensitive cation channel TMEM63C

Acts as an osmosensitive cation channel preferentially activated upon hypotonic stress (PubMed:24503647, PubMed:35718349). In contrast to TMEM63B, does not show phospholipid scramblase activity (PubMed:39716028). Enriched in mitochondria-ER contact sites where it may regulate the metabolite flux and organelles' morphologies in response to osmotic changes (PubMed:35718349). In particular may regulate mitochondrial motility and function in motor neuron axons (PubMed:35718349). Required for the functional integrity of the kidney glomerular filtration barrier (By similarity)