MAL2

Chr 8

mal, T cell differentiation protein 2

NCBI Gene: 114569 ENSG00000147676 UniProt: Q969L2 OMIM: 609684

The protein is a transmembrane component of lipid rafts that is required for transcytosis, the intracellular transport pathway that delivers proteins and cargo from the basolateral to apical cell surface in polarized cells. Mutations cause autosomal recessive congenital diarrhea with protein-losing enteropathy, presenting in early infancy with severe diarrhea and failure to thrive due to intestinal epithelial transport defects. This gene shows relatively low constraint to loss-of-function variants.

OMIM ResearchSummary from RefSeq, UniProt

This gene encodes a multispan transmembrane protein belonging to the MAL proteolipid family. The protein is a component of lipid rafts and, in polarized cells, it primarily localizes to endosomal structures beneath the apical membrane. It is required for transcytosis, an intracellular transport pathway used to deliver membrane-bound proteins and exogenous cargos from the basolateral to the apical surface. [provided by RefSeq, Jul 2008]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.10

LOEUF

Multiple*

Mechanism· predicted