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功能
Involved in neuronal migration during development of the cerebral neocortex. May function in a cell autonomous and a non-cell autonomous manner and play a role in appropriate adhesion between migrating neurons and radial glial fibers. May also regulate growth and differentiation of dendrites.
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组织特异性
Detected in adult brain cortex and fetal frontal lobe (at protein level). Highly expressed in brain cortex, putamen, amygdala, hippocampus and cerebellum.
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疾病相关
Defects in KIAA0319 may be a cause of susceptibility to dyslexia type 2 (DYX2) [MIM:600202]; also known as specific reading disability type 2. Dyslexia is a relatively common, complex cognitive disorder that affects 5% to 10% of school-aged children. The disorder is characterized by an impairment of reading performance despite adequate motivational, educational and intellectual opportunities and in the absence of sensory or neurological disability. Note=A lower expression is associated with the risk haplotype.
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序列相似性
Contains 1 MANSC domain.
Contains 5 PKD domains.
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发展阶段
Expressed in the developing cerebral neocortex and glanglionic eminence in 57 days post-fertilization fetal brain.
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翻译后修饰
N-glycosylated.
O-glycosylated.
Shedding of the extracellular domain and intramembrane cleavage produce several proteolytic products. The intramembrane cleavage releases a soluble cytoplasmic polypeptide that translocates to the nucleolus.
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细胞定位
Cell membrane. Early endosome membrane. Low-abundance isoforms lacking the transmembrane domain have been described; these are secreted.
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Information by UniProt
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数据库链接
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别名
- DLX 2 antibody
- DLX2 antibody
- DYLX 2 antibody
- DYLX2 antibody
- Dyslexia susceptibility 2 antibody
- Dyslexia-associated protein KIAA0319 antibody
- DYX 2 antibody
- DYX2 antibody
- K0319_HUMAN antibody
- Kiaa0319 antibody
- MGC176717 antibody
see all