TMEM30A
Overview
TMEM30A (Transmembrane Protein 30A), also known as CDC50A, is a beta-subunit of P4-ATPase phospholipid flippases involved in membrane phospholipid asymmetry. In primary central nervous system lymphoma (PCNSL), recurrent 6q14.1 deletions affecting TMEM30A were identified by genome-wide analysis.
Alterations observed in the corpus
- 6q14.1 deletion in 44% of primary central nervous system lymphoma (PCNSL) cases (N=18 aCGH); homozygous in 2/18 cases. Novel PCNSL-associated finding from genome-wide analysis. PMID:25991819
Cancer types (linked)
- PCNSL: 6q14.1 deletion frequency 44% (8/18); homozygous deletion in 11% of cases; identified in the context of broader 6q deletional landscape (PRDM1 at 6q21, TNFAIP3 at 6q23). PMID:25991819
Co-occurrence and mutual exclusivity
- Co-occurs with other 6q deletions (PRDM1 at 6q21 in 55%, TNFAIP3 at 6q23 in 55%) in PCNSL, suggesting broad 6q chromosomal instability. PMID:25991819
Therapeutic relevance
- No direct therapeutic targeting established. Loss of TMEM30A may affect membrane phospholipid asymmetry and immune recognition.
Open questions
- Functional consequences of TMEM30A loss in PCNSL lymphomagenesis are not established. PMID:25991819
Sources
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