MAL
Homo sapiens
Gene Name: mal, T-cell differentiation protein
Aliases:
Chromosome No: 2
Chromosome Band: 2q11.1
Genetic Category: Functional
Aliases:
Chromosome No: 2
Chromosome Band: 2q11.1
Genetic Category: Functional
Summary Statistics:
ASD Reports: 2
Recent Reports: 0
Annotated variants: 0
Associated CNVs: 4
Evidence score: null
ASD Reports: 2
Recent Reports: 0
Annotated variants: 0
Associated CNVs: 4
Evidence score: null
| Associated Disorders: |
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Relevance to Autism
Single-gene expression analysis of brain cortical tissue samples from 47 ASD cases and 57 controls identified MAL as a gene showing transcriptome-wide significant differential gene expression (1.2-fold increase) between autism and control brains (P=2.16E-07; threshold for transcriptome-wide significance set at P<4.76E-07) (Gupta et al., 2014).
Molecular Function
The protein encoded by this gene is a highly hydrophobic integral membrane protein belonging to the MAL family of proteolipids that could be an important component in vesicular trafficking cycling between the Golgi complex and the apical plasma membrane and could be involved in myelin biogenesis and/or myelin function.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Transcriptome analysis reveals dysregulation of innate immune response genes and neuronal activity-dependent genes in autism.
ASD
Support
Transcriptome analysis of cortical tissue reveals shared sets of downregulated genes in autism and schizophrenia.
ASD, SCZ