EFL1 gene

elongation factor like GTPase 1

The information on this page was automatically extracted from online scientific databases.

From UniProt:

Involved in the biogenesis of the 60S ribosomal subunit and translational activation of ribosomes. Together with SBDS, triggers the GTP-dependent release of EIF6 from 60S pre-ribosomes in the cytoplasm, thereby activating ribosomes for translation competence by allowing 80S ribosome assembly and facilitating EIF6 recycling to the nucleus, where it is required for 60S rRNA processing and nuclear export. Has low intrinsic GTPase activity. GTPase activity is increased by contact with 60S ribosome subunits.

Covered on Genetics Home Reference:

From NCBI Gene:

  • SHWACHMAN-DIAMOND SYNDROME 2

From UniProt:

Shwachman-Diamond syndrome 2 (SDS2): A form of Shwachman-Diamond syndrome, a disorder characterized by hematopoietic abnormalities, exocrine pancreatic dysfunction, and skeletal dysplasia. Intermittent or chronic neutropenia is the most common hematological manifestation, followed by anemia and thrombocytopenia. Some patients progress to bone marrow failure, myelodysplastic syndrome and malignant transformation, with acute myelogenous leukemia being the most common. Exocrine pancreatic dysfunction is generally the first presenting symptom in infancy. Short stature and metaphyseal dysplasia are the most frequent skeletal manifestations. SDS2 inheritance is autosomal recessive. [MIM:617941]

Cytogenetic Location: 15q25.2, which is the long (q) arm of chromosome 15 at position 25.2

Molecular Location: base pairs 82,130,220 to 82,262,763 on chromosome 15 (Homo sapiens Updated Annotation Release 109.20200522, GRCh38.p13) (NCBI)

Cytogenetic Location: 15q25.2, which is the long (q) arm of chromosome 15 at position 25.2
  • EFTUD1
  • FAM42A
  • HsT19294
  • RIA1
  • SDS2