蛋白质/抗原/多肽 >> 重组蛋白
重组石骨症相关蛋白PLEKHM1
半岛bd体育手机客户端 介绍
基因名:
PLEKHM1 半岛bd体育手机客户端 别名: AP162; B2; OPTA3; OPTB6; PLEKHM1; pleckstrin homology and RUN domain containing M1; pleckstrin homology and RUN domain containing M1; pleckstrin homology domain-containing family M member 1; 162 kDa adapter protein; PH domain-containing family M member 1; pleckstrin homology domain containing, family M (with RUN domain) member 1; 石骨症相关蛋白PLEKHM1; 背景信息:
Involved in vesicular transport in the osteoclast (By similarity). May have a role in sialyl-lex-mediated transduction of apoptotic signals.
Tissue specificity: Expressed in placenta, liver, prostate, thymus, spleen, ovary, colon, colon carcinoma and peripheral blood lymphocytes (PBL). Weakly expressed in brain, lung, kidney, and testis. No expression in heart, skeletal muscle, pancreas and small intestine. Predominantly expressed in the breast carcinoma cell line MCF-7. Involvement in disease:Defects in PLEKHM1 are the cause of osteopetrosis autosomal recessive type 6 (OPTB6); also known as autosomal recessive osteopetrosis intermediate form. Osteopetrosis is a rare genetic disease characterized by abnormally dense bone, due to defective resorption of immature bone. The disorder occurs in two forms: a severe autosomal recessive form occurring in utero, infancy, or childhood, and a benign autosomal dominant form occurring in adolescence or adulthood. Autosomal recessive osteopetrosis is usually associated with normal or elevated amount of non-functional osteoclasts. 标签:His-tag |
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