MAL

Myelin and Lymphocyte Protein (T-cell differentiation protein)

 

  • Alias                                 (According to NCBI)

 
  • T-cell differentiation protein MAL
  • mal, T-cell differentiation protein
  • myelin and lymphocyte protein
  • Myelin and lymphocyte protein (T-lymphocyte maturation-associated protein).

  • The protein encoded by this gene is a highly hydrophobic integral membrane protein belonging to the MAL family of proteolipids. The protein has been localized to the endoplasmic reticulum of T-cells and is a candidate linker protein in T-cell signal transduction. In addition, this proteolipid is localized in compact myelin of cells in the nervous system and has been implicated in myelin biogenesis and/or function. The protein plays a role in the formation, stabilization and maintenance of glycosphingolipid-enriched membrane microdomains. Alternative splicing produces four transcript variants which vary from each other by the presence or absence of alternatively spliced exons 2 and 3.
  • Location: LocusLink cytogenetic band: 2cen-q13    Ensembl cytogenetic band: 2q11.1
  • Orientation: plus strand
  • Size: 28,306 bp
  • 2 exons
  • DNA sequence (Human):  NC_000002

  • CGH (2q11.1):  Losses (%)  -1.7  Gain (%)  2.8 

  • Mutations and SNPs (According to HGMD and SNP)
  • HGMD:
  • SNPs: MAL

 
  • m-RNA                       (According to NCBI and CGAP)

 
  • Size: 153 amino acids; 16713 Da
  • Catalytic activity:

  • Subcellular location:  Integral membrane protein.

  • Protein domains


 

  • Protein sequence (Human): P21145

  • Homologous genes:

  • 2D PAGE: P21145

  • 3D Structure:

  • PTM: MAL
  • Pathways and interactions (According to BioCarta, DIP)

  • Pathway:

  • Protein interactions:

 
 

 
  • Clinical                            (According to OMIM, PubMed)