ATP-binding cassette, sub-family A (ABC1), member 12

Function

• lipid homeostasis

Structure

• multifunctional polypeptide with two homologous halves, each containing an hydrophobic membrane-anchoring domain & an ATP binding cassette (ABC) domain (putative)
• belongs to the ABC transporter family, ABCA subfamily
• contains 2 ABC transporter domains

Compartment

membrane

Alternative splicing

named isoforms=2

Additional isoforms seem to exist

Expression

• expressed in the stomach, placenta, testis, fetal brain

Pathology

• defects in ABCA12 are the cause of
  • lamellar ichthyosis type 2
  • ichthyosis harlequin

More general terms

• ATP-binding cassette sub-family A (ABC transporter-A, ABCA)
• transmembrane 14 protein
• glycoprotein

Additional terms

• lamellar ichthyosis type 2 (ichthyosis congenita 2B, ICR2B)

Database

• OMIM: https://mirror.omim.org/entry/607800
• OMIM: https://mirror.omim.org/entry/601277
• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=26154
• UniProt: http://www.uniprot.org/uniprot/Q86UK0.html