EPB42 gene

erythrocyte membrane protein band 4.2

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

From NCBI Gene:

Erythrocyte membrane protein band 4.2 is an ATP-binding protein which may regulate the association of protein 3 with ankyrin. It probably has a role in erythrocyte shape and mechanical property regulation. Mutations in the EPB42 gene are associated with recessive spherocytic elliptocytosis and recessively transmitted hereditary hemolytic anemia. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

From UniProt:

Probably plays an important role in the regulation of erythrocyte shape and mechanical properties.

Covered on Genetics Home Reference:

From NCBI Gene:

  • Spherocytosis type 5

From UniProt:

Spherocytosis 5 (SPH5): Spherocytosis is a hematologic disorder leading to chronic hemolytic anemia and characterized by numerous abnormally shaped erythrocytes which are generally spheroidal. Absence of band 4.2 associated with spur or target erythrocytes has also been reported. [MIM:612690]

Cytogenetic Location: 15q15-q21, which is the long (q) arm of chromosome 15 between positions 15 and 21

Molecular Location: base pairs 43,197,227 to 43,225,856 on chromosome 15 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 15q15-q21, which is the long (q) arm of chromosome 15 between positions 15 and 21
  • PA
  • SPH5