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