Gene: ISCA2

Alternate names for this Gene: HBLD1|ISA2|MMDS4|c14_5557

Gene Summary: 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.

Gene is located in Chromosome: 14

Location in Chromosome : 14q24.3

Description of this Gene: iron-sulfur cluster assembly 2

Type of Gene: protein-coding

Gene: NPC2

Alternate names for this Gene: EDDM1|HE1

Gene Summary: This gene encodes a protein containing a lipid recognition domain. The encoded protein may function in regulating the transport of cholesterol through the late endosomal/lysosomal system. Mutations in this gene have been associated with Niemann-Pick disease, type C2 and frontal lobe atrophy.

Gene is located in Chromosome: 14

Location in Chromosome : 14q24.3

Description of this Gene: NPC intracellular cholesterol transporter 2

Type of Gene: protein-coding

rs3047739 in ISCA2;NPC2 gene and Blood Protein Measurement PMID 29875488 2018 Genomic atlas of the human plasma proteome.

rs730882246 in ISCA2;NPC2 gene and MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 4 PMID 25539947 2015 ISCA2 mutation causes infantile neurodegenerative mitochondrial disorder.

PMID 25558065 2015 Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families.

rs730882246 in ISCA2;NPC2 gene and Multiple Mitochondrial Dysfunctions Syndrome PMID 25558065 2015 Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families.

PMID 25539947 2015 ISCA2 mutation causes infantile neurodegenerative mitochondrial disorder.