EPB41L1 gene

erythrocyte membrane protein band 4.1 like 1

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

Erythrocyte membrane protein band 4.1 (EPB41) is a multifunctional protein that mediates interactions between the erythrocyte cytoskeleton and the overlying plasma membrane. The encoded protein binds and stabilizes D2 and D3 dopamine receptors at the neuronal plasma membrane. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2015]

From UniProt:

May function to confer stability and plasticity to neuronal membrane via multiple interactions, including the spectrin-actin-based cytoskeleton, integral membrane channels and membrane-associated guanylate kinases.

From NCBI Gene:

  • Mental retardation, autosomal dominant 11

From UniProt:

Mental retardation, autosomal dominant 11 (MRD11): A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. [MIM:614257]

Cytogenetic Location: 20q11.23, which is the long (q) arm of chromosome 20 at position 11.23

Molecular Location: base pairs 36,064,891 to 36,232,799 on chromosome 20 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 20q11.23, which is the long (q) arm of chromosome 20 at position 11.23
  • 4.1N
  • MRD11