Gene: ZFAND2B

Alternate names for this Gene: AIRAPL

Gene Summary: This gene encodes a protein containing AN1-type zinc-fingers and ubiquitin-interacting motifs. The encoded protein likely associates with the proteosome to stimulate the degradation of toxic or misfolded proteins. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene.

Gene is located in Chromosome: 2

Location in Chromosome : 2q35

Description of this Gene: zinc finger AN1-type containing 2B

Type of Gene: protein-coding

Gene: ABCB6

Alternate names for this Gene: ABC|LAN|MTABC3|PRP|umat

Gene Summary: This gene encodes a member of the ATP-binding cassette (ABC) transporter superfamily. ABC proteins transport various molecules across extra- and intra-cellular membranes. This protein is a member of the heavy metal importer subfamily and plays a role in porphyrin transport. This gene is the molecular basis of the Langereis (Lan) blood group antigen and mutations in this gene underlie familial pseudohyperkalemia and dyschromatosis universalis hereditaria.

Gene is located in Chromosome: 2

Location in Chromosome : 2q35

Description of this Gene: ATP binding cassette subfamily B member 6 (Langereis blood group)

Type of Gene: protein-coding

rs387906910 in ZFAND2B;ABCB6 gene and MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 7 PMID 22226084 2012 ABCB6 mutations cause ocular coloboma.