TBCB - tubulin folding cofactor B Gene

Homo sapiens

Also known as CG22; CKAP1; CKAPI

Gene ID: 1155 | Gene type: protein coding

About TBCB

Cytogenetic location: 19q13.12 Genomic coordinates (GRCh38): 19:36,114,967-36,125,941 (from NCBI)

This gene has 15 transcripts (splice variants) and 196 orthologues. Ubiquitous expression in brain (RPKM 27.7), testis (RPKM 13.9) and 25 other tissues.

Summary

Predicted to be involved in cell differentiation and nervous system development. Located in cytosol. [provided by Alliance of Genome Resources, Apr 2022]

TBCB Products(2)

mRNA	Protein	Name
NM_001281.3	NP_001272.2	tubulin-folding cofactor B isoform 1
NM_001300971.3	NP_001287900.1	tubulin-folding cofactor B isoform 2

TBCB Protein Structure

Ubiquitin_2

CAP_GLY

0
100
200
244 a.a.

Protein Preferred Names

Protein Names

tubulin-folding cofactor B

cytoskeleton associated protein 1

Recombinant TBCB Proteins

Cat. No.	Product Name	Accession	Purity
HY-P74164	ESD Protein, Human (His)	3FCX_A (M1-A282)	≥95%
HY-P77331	CKAP1/TBCB Protein, Human (His)	Q99426 (M1-I244)	≥95%

Related Diseases

Diseases

Alias

Kenny-Caffey Syndrome

Kenny Syndrome

Hypoparathyroidism-Retardation-Dysmorphism Syndrome

Sanjad-Sakati Syndrome	Hrd Syndrome
HRDS	Hypoparathyroidism-Intellectual Disability-Dysmorphism Syndrome
Hypoparathyroidism-Short Stature-Intellectual Disability-Seizures Syndrome	Richardson-Kirk Syndrome
Sss	Hypoparathyroidism With Short Stature, Mental Retardation, And Seizures
Hypoparathyroidism, Congenital, Associated With Dysmorphism, Growth Retardation, And Developmental Delay	Hypoparathyroidism With Short Stature, Mental Retardation And Seizures
Hypoparathyroidism With Short Stature, Intellectual Disability And Seizures	Hypoparathyroidism, Congenital, Associated With Dysmorphism, Growth Retardation And Developmental Delay

Neuronopathy, Distal Hereditary Motor, Type Viii

Autosomal Dominant Congenital Benign Spinal Muscular Atrophy	HMN8
Dhmn8	Neuropathy, Distal Hereditary Motor, Type Viii
Distal Hereditary Motor Neuronopathy Type 8	Autosomal Dominant Benign Distal Spinal Muscular Atrophy
Congenital Benign Spinal Muscular Atrophy With Contractures	Congenital Nonprogressive Spinal Muscular Atrophy
Spinal Muscular Atrophy, Distal, Congenital Nonprogressive	Spinal Muscular Atrophy, Congenital Benign, With Contractures
Distal Hereditary Motor Neuropathy Type Viii	Neuronopathy, Distal Hereditary Motor, 8
Distal Spinal Muscular Atrophy, Congenital Non-Progressive	Spinal Muscular Atrophy Congenital Benign With Contractures

Retinitis Pigmentosa 2

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

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-RS14251	TBCB Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	TBCB	RGD	RGD:1309965
Canis familiaris	TBCB	VGNC	VGNC:53996
Mus musculus	TBCB	MGD	MGI:1913661
Macaca mulatta	TBCB	VGNC	VGNC:97835
Bos taurus	TBCB	VGNC	VGNC:35649
Felis catus	TBCB	VGNC	VGNC:97655
Others	TBCB	NCBI