Gene: TUBA8

Alternate names for this Gene: CDCBM8|TUBAL2

Gene Summary: This gene encodes a member of the alpha tubulin protein family. Alpha tubulins are one of two core protein families (alpha and beta tubulins) that heterodimerize and assemble to form microtubules. Mutations in this gene are associated with polymicrogyria and optic nerve hypoplasia. Alternate splicing results in multiple transcript variants.

Gene is located in Chromosome: 22

Location in Chromosome : 22q11.21

Description of this Gene: tubulin alpha 8

Type of Gene: protein-coding

Gene: PEX26

Alternate names for this Gene: PBD7A|PBD7B|PEX26M1T|Pex26pM1T

Gene Summary: This gene belongs to the peroxin-26 gene family. It is probably required for protein import into peroxisomes. It anchors PEX1 and PEX6 to peroxisome membranes, possibly to form heteromeric AAA ATPase complexes required for the import of proteins into peroxisomes. Defects in this gene are the cause of peroxisome biogenesis disorder complementation group 8 (PBD-CG8). PBD refers to a group of peroxisomal disorders arising from a failure of protein import into the peroxisomal membrane or matrix. The PBD group is comprised of four disorders: Zellweger syndrome (ZWS), neonatal adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), and classical rhizomelic chondrodysplasia punctata (RCDP). Alternatively spliced transcript variants have been identified for this gene.

Gene is located in Chromosome: 22

Location in Chromosome : 22q11.21

Description of this Gene: peroxisomal biogenesis factor 26

Type of Gene: protein-coding