TUBA3D gene

From NCBI Gene:

This gene encodes a member of the alpha tubulin family. Tubulin is a major component of microtubules, which are composed of alpha- and beta-tubulin heterodimers and microtubule-associated proteins in the cytoskeleton. Microtubules maintain cellular structure, function in intracellular transport, and play a role in spindle formation during mitosis. [provided by RefSeq, Oct 2011]

From UniProt: TBA3D_HUMAN:

From UniProt: TBA3C_HUMAN:

From NCBI Gene:

• KERATOCONUS 9

From UniProt: TBA3D_HUMAN:

Keratoconus 9 (KTCN9): An autosomal dominant form of keratoconus, a common degenerative corneal disease characterized by progressive, non-inflammatory thinning of the corneal stroma, corneal ectasia, and cone-shaped corneal protrusion that results in reduced vision. [MIM:617928]

Cytogenetic Location: 2q21.1, which is the long (q) arm of chromosome 2 at position 21.1

Molecular Location: base pairs 131,476,119 to 131,482,934 on chromosome 2 (Homo sapiens Updated Annotation Release 109.20200522, GRCh38.p13) (NCBI)

• H2-ALPHA
• KTCN9
• TUBA2