TBCD - tubulin folding cofactor D Gene

Homo sapiens

Also known as tfcD; PEBAT; SSD-1

Gene ID: 6904 | Gene type: protein coding

About TBCD

Cytogenetic location: 17q25.3 Genomic coordinates (GRCh38): 17:82,752,065-82,945,914 (from NCBI)

This gene has 58 transcripts (splice variants), 1 gene allele, 207 orthologues and is associated with 3 phenotypes. Ubiquitous expression in testis (RPKM 5.2), thyroid (RPKM 5.0) and 25 other tissues.

Summary

Cofactor D 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]

TBCD Products(3)

mRNA	Protein	Name
NM_001411101.1	NP_001398030.1	tubulin-specific chaperone D isoform 2
NM_001411102.1	NP_001398031.1	tubulin-specific chaperone D isoform 3
NM_005993.5	NP_005984.3	tubulin-specific chaperone D isoform 1

TBCD Protein Structure

TFCD_C

0
200
400
600
800
1000
1192 a.a.

Protein Preferred Names

Protein Names

tubulin-specific chaperone D

beta-tubulin cofactor D

Related Diseases

Diseases

Alias

Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum

Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome

PEBAT

Seborrhea-Like Dermatitis With Psoriasiform Elements

SLDP

Corneal Dystrophy, Reis-Bucklers Type

Reis-Bucklers Corneal Dystrophy	Rbcd
CDRB	Cdb1
Corneal Dystrophy Of Bowman Layer Type I	Geographic Corneal Dystrophy
Granular Corneal Dystrophy Type Iii	Reis-Bucklers' Corneal Dystrophy
Anterior Limiting Membrane Dystrophy Type I	Corneal Dystrophy Of Bowman Layer Type 1
Corneal Dystrophy Of Bowman Layer, Type I	Corneal Dystrophy, Geographic
Granular Corneal Dystrophy, Type Iii	Corneal Dystrophy Reis Bucklers Type
Corneal Dystrophy Geographic	Reis Bucklers Corneal Dystrophy
Reis Bucklers Dystrophy	Anterior Limiting Membrane Dystrophy Type 1
Atypical Granular Corneal Dystrophy	Granular Corneal Dystrophy Type 3
Superficial Granular Corneal Dystrophy	Corneal Dystrophy Of Bowman Layer, Type 1
Dystrophy, Corneal, Reis-Bucklers Type

Corneal Dystrophy, Thiel-Behnke Type

Thiel-Behnke Corneal Dystrophy	Tbcd
CDTB	Cdb2
Corneal Dystrophy Of Bowman Layer Type Ii	Anterior Limiting Membrane Dystrophy Type Ii
Waardenburg-Jonker Corneal Dystrophy	Corneal Dystrophy Of Bowman Layer, Type Ii
Corneal Dystrophy, Honeycomb-Shaped	Corneal Dystrophy Honeycomb-Shaped
Corneal Dystrophy Thiel Behnke Type	Corneal Dystrophy Honeycomb Shaped
Corneal Dystrophy Of The Bowman Layer Type 2	Thiel Behnke Corneal Dystrophy
Anterior Limiting Membrane Dystrophy Type 2	Corneal Dystrophy Of Bowman Layer Type 2
Curly Fiber Corneal Dystrophy	Honeycomb Corneal Dystrophy
Honeycomb-Shaped Corneal Dystrophy	Dystrophy, Corneal, Thiel-Behnke Type

Retinitis Pigmentosa 13

RP13	Retinitis Pigmentosa-13
Retinitis Pigmentosa, Type 13

Epithelial Basement Membrane Dystrophy

Ebmd	Corneal Dystrophy, Epithelial Basement Membrane
Cogan Corneal Dystrophy	Microcystic Corneal Dystrophy
Anterior Basement Membrane Dystrophy	Cogan Microcystic Epithelial Dystrophy
Map-Dot-Fingerprint Dystrophy	Microscopic Cystic Corneal Dystrophy

Spastic Quadriplegia

Spastic Quadriplegic Cerebral Palsy	Quadriplegic Infantile Cerebral Palsy
Tetraplegic Infantile Cerebral Palsy	Cerebral Palsy Spastic Quadriplegic
Quadriplegic Cerebral Palsy	Spastic Quadriplegia Cerebral Palsy
Spastic Tetraplegia Cerebral Palsy	Cerebral Palsy, Quadriplegic, Infantile
Cerebral Palsy With Spastic Tetraplegia	Congenital Spastic Quadriplegia
Spastic Tetraplegic Cerebral Palsy	Congenital Quadriplegia Nos
Tetraplegic Cerebral Palsy

Corneal Dystrophy, Avellino Type

Avellino Corneal Dystrophy	CDA
Combined Granular-Lattice Corneal Dystrophy	Cgd2
Granular Corneal Dystrophy Type 2	Acd
Granular Corneal Dystrophy 2	Corneal Dystrophy Avellino Type
Granular Corneal Dystrophy Type Ii	Granular Corneal Dystrophy, Type Ii
Combined Granular-Lattice Corneal Dystrophies	Granular And Lattice Corneal Dystrophies
Granular-Lattice Corneal Dystrophy	Gcd2
Gcdii	Granular-Lattice Corneal Dystrophy

Granular Corneal Dystrophy

Granular Dystrophy Corneal	Corneal Dystrophies, Hereditary
Hereditary Corneal Dystrophy	Corneal Dystrophy Nos
Familial Hereditary Corneal Degeneration	Hereditary Corneal Opacity

Epithelial-Stromal Tgfbi Dystrophy

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

Corneal Deposit

Deposits - Cornea

Retinitis Pigmentosa 2

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

Tubulinopathy

Tubulinopathies

Epithelial And Subepithelial Dystrophy

Kenny-Caffey Syndrome

Kenny Syndrome

Lattice Corneal Dystrophy

Familial Amyloid Neuropathy, Finnish Type

Familial Amyloid Polyneuropathy, Type V

Intellectual Developmental Disorder, Autosomal Dominant 43

MRD43	Autosomal Dominant Non-Syndromic Intellectual Disability 43
Autosomal Dominant Intellectual Developmental Disorder 43	Autosomal Dominant Mental Retardation 43

Peho Syndrome

Progressive Encephalopathy With Edema, Hypsarrhythmia, And Optic Atrophy	Infantile Cerebellooptic Atrophy
PEHO	Progressive Encephalopathy With Edema, Hypsarrhythmia And Optic Atrophy
Progressive Encephalopathy-Optic Atrophy Syndrome

Microcephaly

Microencephaly	Microcephalus
Microcephalic	Nanocephaly
Congenital Microcephaly	Brain Hypoplasia
Brain Nondevelopment	Cephalic Hypoplasia
Undeveloped Cerebrum	Undeveloped Brain
Micrencephalon	Micrencephaly

Psoriasis 7

PSORS7	Psoriasis 7, Susceptibility To
Psoriasis Susceptibility 7	Psoriasis
Psoriasis Vulgaris	Pv

Quadriplegia

Tetraplegia

Tetraplegias

Macular Dystrophy, Patterned, 2

Patterned Macular Dystrophy 2	MDPT2
Macular Dystrophy, Butterfly-Shaped Pigmentary, 2	Butterfly-Shaped Pigmentary Maculary Dystrophy 2

Macrocephaly/Autism Syndrome

Macrocephaly-Autism Syndrome	Macrocephaly-Intellectual Disability-Autism Syndrome
MCEPHAS

Primary Autosomal Recessive Microcephaly

Autosomal Recessive Primary Microcephaly	Mcph
True Microcephaly	Microcephalia Vera
Microcephaly Vera	Microcephaly Primary Hereditary
Microcephaly, Primary, Autosomal Recessive	Primary Microcephaly

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

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-RS14253	TBCD Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	TBCD	VGNC	VGNC:65995
Canis familiaris	TBCD	VGNC	VGNC:47156
Rattus norvegicus	TBCD	RGD	RGD:2320148
Bos taurus	TBCD	VGNC	VGNC:35652
Mus musculus	TBCD	MGD	MGI:1919686
Macaca mulatta	TBCD	VGNC	VGNC:78106