Yeast gene | Human gene | % ident. | Subcellular localization | Biological function | OMIM | Clinical phenotype |
---|---|---|---|---|---|---|
CCC2 | ATP7A | 23 | Golgi apparatus, Plasma membrane | Cu ion transport across membranes | 309400 | Menkes disease (copper deficiency) |
ATP7B | 24 | Golgi apparatus, Mitochondria | 277900 | Wilson disease (copper overload) | ||
ADK1 | AK2 | 54 | Mitochondrial inter-membrane space | Energy and nucleotide metabolism | 267500 | Immunodeficiency, sensorineural deafness |
COX12 | COX6B1 | 42 | Energy metabolism, respiratory chain complex | 220110 | Encephalopathy, growth retardation, vision loss | |
VMA2 | ATP6V1B1 | 73 | Endomembrane, plasma membrane | Vacuolar proton-translocating ATPase | 267300 | Renal tubular acidosis, sensorineural deafness |
HFA1 | ACACA | 38 | Mitochondria, cytoplasm | Fatty acid biosynthesis | 613933 | Encephalopathy, growth retardation, myopathy |
GEF1 | CLCN5 | 30 | Endosome membrane, lysosomal membrane | Chloride channels and ion transporter | 300009 | Renal tubular disease, kidney stones |
CLCN7 | 20 | 166600 | Osteosclerosis, multiple fractures, vision loss | |||
VPS33 | VPS33B | 23 | Protein transport, membrane fusion | 208085 | Arthrogryposis, renal dysfunction, cholestasis | |
NHX1 | SLC9A9 | 27 | Endosome membrane | pH regulation, ion transport | 613410 | Autism, seizures |
SLC9A6 | 26 | 300243 | Mental retardation, seizures, ataxia | |||
APS1 | AP1S2 | 51 | Golgi apparatus | AP-1 adaptor complex, protein transport, vesicular trafficking | 300630 | Mental retardation, cerebral calcifications |
AP4S1 | 26 | 614067 | Spastic paraplegia, mental retardation | |||
APL2 | AP4B1 | 22 | 614066 | |||
APM1 | AP4M1 | 24 | 612936 | |||
ARL1 | ARL6 | 39 | Protein transport, metal ion binding, membrane trafficking | 209900 | Mental retardation, obesity, retinopathy | |
ARL3 | ARL13B | 13 | 612291 | Cerebral malformation, mental retardation | ||
COG6 | COG6 | 19 | Oligomeric Golgi complex, vesicular transport | 606977 | Vitamin K deficiency, intracranial bleedings | |
APL6 | AP3B1 | 20 | AP-3 adaptor complex, protein transport | 608233 | Platelet defect, albinism, immunodeficiency | |
ERG24 | DHCR7 | 27 | Endoplasmatic reticulum | Cholesterol biosynthesis, sterol metabolism | 270400 | Mental retardation, congenital malformation |
 | LBR | 27 | Nuclear membrane |  | 215140 | Skeletal dysplasia, leukocyte disorder |