MAL: Myelin and Lymphocyte Protein, T-Cell Differentiation Protein
A key regulator of T-cell development and myelin formation, implicated in cancer and neurological disorders.
Gene Information Card
| Symbol | MAL |
|---|---|
| Full Name | mal, T-cell differentiation protein |
| Gene Type | protein-coding |
| Chromosomal Location | 2q11.1 |
| NCBI Gene ID | 4118 ncbi.nlm.nih.gov/gene/4118 |
| Ensembl ID | ENSG00000172062 |
| UniProt ID | P21145 |
| OMIM ID | 188860 |
| HGNC ID | 6817 |
| Aliases | VIP17, MAL1, MALL, MVPP17 |
Description
The MAL gene encodes a membrane-associated protein that is a component of the myelin sheath and is involved in T-cell differentiation. It plays a role in vesicular trafficking, apical transport, and signal transduction. MAL is also implicated in the pathogenesis of several cancers and neurological conditions.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| T-cell acute lymphoblastic leukemia (T-ALL) | MAL is a target of the TAL1 oncogene; aberrant expression contributes to leukemogenesis. | PMID: 10655551, NCBI Gene |
| Multiple sclerosis | MAL expression is altered in demyelinating lesions; involved in myelin maintenance. | PMID: 11532952, OMIM |
| Colorectal cancer | MAL promoter hypermethylation leads to silencing; associated with poor prognosis. | PMID: 16980328, COSMIC |
| Cervical cancer | MAL downregulation via methylation correlates with tumor progression. | PMID: 17909063, ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Lymph node | 8.3 | Low |
| Spleen | 6.7 | Low |
| Kidney | 4.2 | Low |
| Liver | 1.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Jurkat (T-cell leukemia) | 15.2 | High expression |
| HeLa (cervical cancer) | 3.8 | Low expression |
| HEK293 (embryonic kidney) | 2.1 | Very low |
| SH-SY5Y (neuroblastoma) | 9.4 | Medium |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | missense | <0.1% | Likely loss of start codon; functional impact unknown |
| c.124C>T (p.Arg42Cys) | missense | <0.1% | Rare variant; uncertain significance |
| c.205G>A (p.Gly69Ser) | missense | <0.1% | Reported in COSMIC; no known functional effect |
Mutation functional classification
Loss of Function (LOF)
Promoter hypermethylation leading to gene silencing is a common loss-of-function mechanism in cancers.
Gain of Function (GOF)
Not well documented; overexpression in T-ALL may act as an oncogenic gain-of-function.
Dominant Negative (DN)
No known dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • plasma membrane (GO:0005886) | • integral component of membrane (GO:0016021) |
| • protein binding (GO:0005515) | • intracellular membrane-bounded organelle (GO:0043231) |
| • endocytosis (GO:0006897) |
Pathways
• T-cell receptor signaling pathway (KEGG: hsa04660)
• Vesicle-mediated transport (Reactome: R-HSA-5653656)
Protein Summary
The MAL protein is a 17 kDa proteolipid that localizes to the plasma membrane and intracellular vesicles. It is essential for the formation and maintenance of myelin in oligodendrocytes and Schwann cells. In T-cells, MAL participates in the apical transport pathway and is involved in T-cell receptor signaling. Its expression is tightly regulated, and dysregulation via epigenetic silencing or oncogenic activation contributes to tumorigenesis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MALT1 Knockout HEK293 Cell Line | EDJ-KQ576 | Human | 10892 | Details Get a Quote |
| MAL Knockout HEK293 Cell Line | EDJ-KQ5164 | Human | 4118 | Details Get a Quote |
| MALL Knockout HEK293 Cell Line | EDJ-KQ6136 | Human | 7851 | Details Get a Quote |
| MAL2 Knockout HEK293 Cell Line | EDC90519 | Human | 114569 | Details Get a Quote |
| MALRD1 Knockout HEK293 Cell Line | EDJ-KQ14184 | Human | 340895 | Details Get a Quote |
| MALT1 Knockout A-549 Cell Line | EDJ-KQ18972 | Human | 10892 | Details Get a Quote |
| MALT1 Knockout HCT 116 Cell Line | EDJ-KQ18973 | Human | 10892 | Details Get a Quote |
| MALT1 Knockout HeLa Cell Line | EDJ-KQ18974 | Human | 10892 | Details Get a Quote |
| MALL Knockout HeLa Cell Line | EDJ-KQ29917 | Human | 7851 | Details Get a Quote |
| MALL Knockout A-549 Cell Line | EDJ-KQ29915 | Human | 7851 | Details Get a Quote |
| MALL Knockout HCT 116 Cell Line | EDJ-KQ29916 | Human | 7851 | Details Get a Quote |
| MAL2 Knockout HCT 116 Cell Line | EDJ-KQ32657 | Human | 114569 | Details Get a Quote |
| MAL2 Knockout HeLa Cell Line | EDJ-KQ32658 | Human | 114569 | Details Get a Quote |
| MAL Knockout HeLa Cell Line | EDJ-KQ53838 | Human | 4118 | Details Get a Quote |
| MALRD1 Knockout HeLa Cell Line | EDJ-KQ59696 | Human | 340895 | Details Get a Quote |
