TBCC - tubulin folding cofactor C Gene

Homo sapiens

Also known as CFC

Gene ID: 6903 | Gene type: protein coding

About TBCC

Cytogenetic location: 6p21.1 Genomic coordinates (GRCh38): 6:42,744,498-42,746,103 (from NCBI)

This gene has 1 transcript (splice variant) and 166 orthologues.

Summary

Cofactor C is one of four proteins (cofactors A, D, E, and C) involved in the pathway leading to correctly folded beta-tubulin from folding intermediates. Cofactors A and D are believed to play a role in capturing and stabilizing beta-tubulin intermediates in a quasi-native confirmation. Cofactor E binds to the cofactor D/beta-tubulin complex; interaction with cofactor C then causes the release of beta-tubulin polypeptides that are committed to the native state. [provided by RefSeq, Jul 2008]

TBCC Products(1)

mRNA	Protein	Name
NM_003192.3	NP_003183.2	tubulin-specific chaperone C

TBCC Protein Structure

TBCC

0
100
200
300
346 a.a.

Protein Preferred Names

Protein Names

tubulin-specific chaperone C

Related Diseases

Diseases

Alias

Retinitis Pigmentosa 2

RP2	X-Linked Retinitis Pigmentosa 2
Xlrp2	Xlrp-2
Retinitis Pigmentosa-2	Retinitis Pigmentosa, Type 2

Quadriplegia

Tetraplegia

Tetraplegias

Kenny-Caffey Syndrome

Kenny Syndrome

Leukodystrophy, Hypomyelinating, 6

Habc	Hypomyelinating Leukodystrophy 6
HLD6	H-Abc
Hypomyelination With Atrophy Of Basal Ganglia And Cerebellum	Leukodystrophy, Hypomyelinating, With Atrophy Of The Basal Ganglia And Cerebellum
Hypomyelinating Leukodystrophy With Atrophy Of The Basal Ganglia And Cerebellum	HLD
Leukodystrophy, Hypomyelinating, Type 6

Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly

Asphyxiating Thoracic Dystrophy 3	Saldino-Noonan Syndrome
SRTD3	Atd3
Srps1	Srps3
Verma-Naumoff Syndrome	Srps2b
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Short Rib-Polydactyly Syndrome, Type I
Polydactyly With Neonatal Chondrodystrophy, Type I	Polydactyly With Neonatal Chondrodystrophy, Type Iii
Short Rib-Polydactyly Syndrome, Type Iib	Short Rib-Polydactyly Syndrome Type 3
Polydactyly With Neonatal Chondrodystrophy Type Iii	Short Rib-Polydactyly Syndrome Type Iii
Short Rib-Polydactyly Syndrome Type 1	Short Rib-Polydactyly Syndrome, Saldino-Noonan Type
Majewski Syndrome	Short Rib-Polydactyly Syndrome, Type Iii
Type I Short Rib Polydactyly Syndrome	Srps Type 3
Short Rib Polydactyly Syndrome Verma Naumoff Type	Verma Naumoff Syndrome
Polydactyly With Neonatal Chondrodystrophy Type 1	Srps Type 1
Short Rib-Polydactyly Syndrome Saldino-Noonan Type	Jatd
Jeune Asphyxiating Thoracic Dystrophy	Jeune Syndrome 3
Polydactyly With Neonatal Chondrodystrophy Type I	Short Rib-Polydactyly Syndrome Type I
Short Rib-Polydactyly Syndrome Type Iib	Srps Type Iib
Srps Type Iii

Short-Rib Thoracic Dysplasia 12

Beemer-Langer Syndrome	Type Iv Short Rib Polydactyly Syndrome
Short Rib-Polydactyly Syndrome Type 4	Short Rib-Polydactyly Syndrome, Beemer Type
SRTD12	Short Rib-Polydactyly Syndrome, Type Iv
Srps4	Srps Iv
Short Rib Syndrome, Beemer Type	Beemer Langer Syndrome
Srps Type 4	Short Rib Polydactyly Syndrome Beemer-Langer Type
Short Rib-Polydactyly Syndrome Beemer Type	Short Rib-Polydactyly Syndrome Type Iv
Short Rib-Polydactyly Syndrome, Beemer-Langer Type

Retinitis Pigmentosa

RP	Rod-Cone Dystrophy
Autosomal Recessive Retinitis Pigmentosa	Non-Syndromic Retinitis Pigmentosa
Pericentral Pigmentary Retinopathy	Pigmentary Retinopathy
Tapetoretinal Degeneration	Rcd
Retinitis Pigmentosa Autosomal Recessive	ARRP
Retinitis Pigmentosa, Autosomal Recessive	Retinitis Pigmentosa 1

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS14252	TBCC Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	TBCC	VGNC	VGNC:35650
Macaca mulatta	TBCC	VGNC	VGNC:78105
Mus musculus	TBCC	MGD	MGI:1919976
Felis catus	TBCC	VGNC	VGNC:65993
Canis familiaris	TBCC	VGNC	VGNC:47154
Rattus norvegicus	TBCC	RGD	RGD:1306756