Lrrc31

Homo sapiens

ASSOCIATED WITH autosomal dominant dyskeratosis congenita 1; Fanconi-Bickel syndrome; INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; aflatoxin B1

Hps5

Homo sapiens

INVOLVED IN blood coagulation (ortholog); pigmentation (ortholog); ASSOCIATED WITH Abnormal bleeding; Fanconi-Bickel syndrome; genetic disease; FOUND IN BLOC-2 complex; cytosol; INTERACTS WITH (-)-epigallocatechin 3-gallate; 17beta-estradiol; acrylamide

Slc2a2

Homo sapiens

This gene encodes an integral plasma membrane glycoprotein of the liver, islet beta cells, intestine, and kidney epithelium. The encoded protein mediates facilitated bidirectional glucose transport. Because of its low affinity for glucose, it has been suggested as a glucose sensor. Mutations in this gene are associated with susceptibility to diseases, including Fanconi-Bickel syndrome and noninsulin-dependent diabetes mellitus (NIDDM). Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jul 2013]