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This gene encodes a transporter protein that mediates melanin synthesis. The protein is expressed in a high percentage of melanoma cell lines. Mutations in this gene are a cause of oculocutaneous albinism type 4, and polymorphisms in this gene are associated with variations in skin and hair color. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]
[中文简述(自动翻译):]  这个基因编码介导的黑色素合成的转运蛋白。该蛋白质在黑色素瘤细胞系的高百分比表示。在这个基因的突变是眼皮肤白化病型4的一个原因,并且在该基因多态性与皮肤和头发的颜色的变化相关联。已发现该基因编码不同亚型的多个抄本变形。 [由RefSeq的,2009年03月提供]
SLC45A2基因(以及对应的蛋白质)的细胞分布位置:
SLC45A2基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Oculocutaneous Albinism, Type IV | 0.560271442 | 6 | 12 | BeFree_CLINVAR_CTD_human_MGD_ORPHANET_UNIPROT |
melanoma | 0.26162693 | 18 | 3 | BeFree_CTD_human_GAD_GWASCAT_LHGDN |
Squamous cell carcinoma | 0.123181358 | 4 | 1 | BeFree_CTD_human_GAD |
Basal cell carcinoma | 0.122367032 | 2 | 0 | CTD_human_GAD |
Skin pigmentation - finding | 0.122367032 | 1 | 1 | GAD_GWASCAT |
Substance-Related Disorders | 0.12 | 1 | 0 | CTD_human |
Albinism, Oculocutaneous | 0.032686153 | 28 | 3 | BeFree_GAD_LHGDN |
Albinism, Ocular | 0.003267234 | 3 | 0 | BeFree_LHGDN |
Malignant neoplasm of breast | 0.002909916 | 3 | 0 | BeFree_GAD |
Skin Neoplasms | 0.002367032 | 1 | 0 | GAD |
Structure showing abnormal deposition of pigment (morphologic abnormality) | 0.002367032 | 1 | 0 | GAD |
Hyperbilirubinemia, Neonatal | 0.001085767 | 4 | 0 | BeFree |
Albinism | 0.000814326 | 3 | 0 | BeFree |
Colorectal Carcinoma | 0.000814326 | 3 | 0 | BeFree |
Cutaneous Melanoma | 0.000814326 | 3 | 0 | BeFree |
Malignant neoplasm of lung | 0.000814326 | 3 | 0 | BeFree |
Carcinoma of lung | 0.000814326 | 3 | 0 | BeFree |
Hyperbilirubinemia | 0.000542884 | 2 | 0 | BeFree |
Leukopenia | 0.000542884 | 2 | 0 | BeFree |
Neutropenia | 0.000542884 | 2 | 0 | BeFree |
Hypopigmentation disorder | 0.000542884 | 2 | 0 | BeFree |
Malignant neoplasm of prostate | 0.000542884 | 2 | 0 | BeFree |
Prostate carcinoma | 0.000542884 | 2 | 0 | BeFree |
Breast Carcinoma | 0.000542884 | 2 | 0 | BeFree |
Malignant Squamous Cell Neoplasm | 0.000542884 | 2 | 0 | BeFree |
Colorectal Cancer | 0.000542884 | 2 | 0 | BeFree |
ALBINOIDISM, OCULOCUTANEOUS, AUTOSOMAL DOMINANT | 0.000542884 | 2 | 0 | BeFree |
Experimental Organism Basal Cell Carcinoma | 0.000542884 | 2 | 1 | BeFree |
Asthma | 0.000271442 | 1 | 0 | BeFree |
Diarrhea | 0.000271442 | 1 | 0 | BeFree |
Fatigue | 0.000271442 | 1 | 0 | BeFree |
Gilbert Disease (disorder) | 0.000271442 | 1 | 0 | BeFree |
leukemia | 0.000271442 | 1 | 0 | BeFree |
Isochromosomes | 0.000271442 | 1 | 0 | BeFree |
Metastatic melanoma | 0.000271442 | 1 | 0 | BeFree |
Dermatofibrosarcoma Protuberans | 0.000271442 | 1 | 0 | BeFree |
Visual disturbance | 0.000271442 | 1 | 0 | BeFree |
Choledocholithiasis | 0.000271442 | 1 | 0 | BeFree |
Melanocytic neoplasm | 0.000271442 | 1 | 0 | BeFree |
SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 2 (disorder) | 0.000271442 | 1 | 3 | BeFree |
Breastfeeding Jaundice | 0.000271442 | 1 | 0 | BeFree |
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