NBAS

Involved in Golgi-to-endoplasmic reticulum (ER) retrograde transport; the function is proposed to depend on its association in the NRZ complex which is believed to play a role in SNARE assembly at the ER (PubMed:19369418). Required for normal embryonic development (By similarity). May play a role in the nonsense-mediated decay pathway of mRNAs containing premature stop codons (By similarity).

Short stature, optic nerve atrophy, and Pelger-Huet anomaly

SOPH

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.

None

The disease is caused by variants affecting the gene represented in this entry.

Infantile liver failure syndrome 2

ILFS2

A form of infantile liver failure syndrome, a life-threatening disorder of hepatic function that manifests with acute liver failure in the first few months of life. Clinical features include anemia, renal tubulopathy, developmental delay, seizures, failure to thrive, and liver steatosis and fibrosis.

None

The disease is caused by variants affecting the gene represented in this entry.

NBAS mutations have been found in a multisystem disease affecting the liver, eye, immune system, connective tissue, and bone. Clinical manifestations include a progeroid appearance, short stature, slender bones, epiphyseal dysplasia with multiple phalangeal pseudo-epiphyses, cervical instability, myelopathy, elevated transaminases, hypogammaglobulinemia, reduced natural killer cells, Pelger-Huet anomaly of granulocytes, and in some cases retinal dystrophy and optic atrophy.

Broadly expressed, with highest levels in heart and skeletal muscle, and lowest levels in liver, small intestine and thymus. Well expressed in retinal ganglion cells, epidermal skin cells, and leukocytes. Up-regulated together with N-myc in some neuroblastoma cell lines.

• Cytoplasm
• Endoplasmic reticulum
• Endoplasmic reticulum membrane
• Peripheral membrane protein

NAG, NBAS, NBAS subunit of NRZ tethering complex, Neuroblastoma-amplified gene protein, Neuroblastoma-amplified sequence

• entrezGene:51594
• omim:608025
• swissprot:A2RRP1

Proteins

Neuroscience

268571Da