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Rabbit Anti-NBAS/FITC Conjugated antibody
background:
This gene encodes a protein with two leucine zipper domains, a ribosomal protein S14 signature domain and a Sec39 like domain. The protein is thought to be involved in Golgi-to-ER transport. Mutations in this gene are associated with short stature, optic nerve atrophy, and Pelger-Huet anomaly. [provided by RefSeq, Oct 2012]
Subcellular Location:
Cytoplasm
Tissue Specificity:
Broadly expressed, with highest levels in heart and skeletal muscle, and lowest levels in liver, small intestine and thymus. Up-regulated together with N-myc in some neuroblastoma cell lines.
DISEASE:
Short stature, optic nerve atrophy, and Pelger-Huet anomaly (SOPH) [MIM:62960]: An autosomal recessive syndrome characterized by severe postnatal growth retardation, facial dysmorphism with senile face, small hands and feet, normal intelligence, abnormal nuclear shape in neutrophil granulocytes (Pelger-Huet anomaly), and optic atrophy with loss of visual acuity and color vision.
Similarity:
Contains 2 WD repeats.
Database links:
Entrez Gene: 51594 Human
Omim: 608025 Human
SwissProt: A2RRP1 Human
Unigene: 467759 Human
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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