ISCA2 gene

iron-sulfur cluster assembly 2

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

From NCBI Gene:

The protein encoded by this gene is an A-type iron-sulfur cluster (ISC) protein found in mitochondria. The encoded protein appears to be involved in the maturation of mitochondrial iron-sulfur proteins. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012]

From UniProt:

Involved in the maturation of mitochondrial 4Fe-4S proteins functioning late in the iron-sulfur cluster assembly pathway. May be involved in the binding of an intermediate of Fe/S cluster assembly.

From NCBI Gene:

  • Multiple mitochondrial dysfunctions syndrome 4

From UniProt:

Multiple mitochondrial dysfunctions syndrome 4 (MMDS4): A severe disorder of systemic energy metabolism, resulting in weakness, respiratory failure, lack of neurologic development, lactic acidosis, hyperglycinemia and early death. [MIM:616370]

Cytogenetic Location: 14q24.3, which is the long (q) arm of chromosome 14 at position 24.3

Molecular Location: base pairs 74,493,720 to 74,495,568 on chromosome 14 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 14q24.3, which is the long (q) arm of chromosome 14 at position 24.3
  • c14_5557
  • HBLD1
  • ISA2
  • MMDS4