Gene Symbol |
WDR45
|
Entrez Gene |
11152
|
Alt Symbol |
JM5, NBIA4, NBIA5, WDRX1, WIPI-4, WIPI4
|
Species |
Human
|
Gene Type |
protein-coding
|
Description |
WD repeat domain 45
|
Other Description |
WD repeat domain phosphoinositide-interacting protein 4|WD repeat domain, X-linked 1|WD repeat-containing protein 45|WD45 repeat protein interacting with phosphoinositides 4|neurodegeneration with brain iron accumulation 4|neurodegeneration with brain iron accumulation 5
|
Swissprots |
Q6NT94 Q6IBS7 Q9Y484 B7WPI2 Q96H03 Q5MNZ5 A6NGH5
|
Accessions |
EAW50695 EAW50696 EAW50697 EAW50698 EAW50699 EAW50700 EAW50701 EAW50702 EAW50703 EAW50704 Q9Y484 AJ005897 CAA06754 AK023344 AK225122 AK301084 BAG62688 AK315717 AY691428 AAV80764 BC000464 AAH00464 BC003037 AAH03037 BC009027 AAH09027 BC035979 BC069206 AAH69206 BQ068083 CR456725 CAG33006 DQ892245 ABM83171 DQ895446 ABM86372 NM_001029896 NP_001025067 NM_007075 NP_009006
|
Function |
Plays an important role in the autophagy pathway, which is the major intracellular degradation system by which cytoplasmic materials are packaged into autophagosomes and delivered to lysosomes for degradation. {ECO:0000269|PubMed:23435086}.
|
Tissue Specificity |
Ubiquitously expressed, with high expression in skeletal muscle and heart. Weakly expressed in liver and placenta. Expression is down-regulated in pancreatic and in kidney tumors. {ECO:0000269|PubMed:15602573}.
|