2. Gene
  3. FAM50A - family with sequence similarity 50 member A Gene

FAM50A - family with sequence similarity 50 member A Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as 9F; XAP5; HXC26; MRXSA; HXC-26; DXS9928E

Gene ID: 9130 | Gene type: protein coding

About FAM50A

Cytogenetic location: Xq28 Genomic coordinates (GRCh38): X:154,444,141-154,450,654 (from NCBI)

This gene has 7 transcripts (splice variants), 198 orthologues, 1 paralogue and is associated with 1 phenotype. Ubiquitous expression in fat (RPKM 32.0), placenta (RPKM 25.3) and 25 other tissues.

Summary

This gene belongs to the FAM50 family. The encoded protein is highly conserved in length and sequence across different species. It is a basic protein containing a nuclear localization signal, and may function as a DNA-binding protein or a transcriptional factor. [provided by RefSeq, Sep 2009]

FAM50A Products(1)

mRNA Protein Name
NM_004699.4 NP_004690.1 protein FAM50A

FAM50A Protein Structure

XAP5

XAP5: XAP5, circadian clock regulator (110 - 338)

  • 0
  • 100
  • 200
  • 300
  • 339 a.a.
Protein Preferred Names Protein Names

protein FAM50A

protein XAP-5

Related Diseases

Diseases Alias
Armfield Syndrome

X-Linked Intellectual Disability, Armfield Type

Armfield X-Linked Mental Retardation Syndrome

Mental Retardation Syndrome, X-Linked, Armfield Type

Mrxsa

Syndromic X-Linked Mental Retardation Armfield Type
Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type

Armfield X-Linked Mental Retardation Syndrome

MRXSA
Arboleda-Tham Syndrome

Kat6a Syndrome

Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome

ARTHS

Mrd32

Mental Retardation, Autosomal Dominant 32, Formerly

Mrd32, Formerly

Autosomal Dominant Mental Retardation 32

Autosomal Dominant Non-Syndromic Intellectual Disability 32

Arboleda-Tham
Deafness, Autosomal Recessive 109

DFNB109

Autosomal Recessive Nonsyndromic Deafness 109

Autosomal Recessive Deafness 109

Deafness, Autosomal Recessive, 109
Dystonia 16

DYT16

Dyt-Prkra

Dystonia-16

Young-Onset Dystonia-

Early-Onset Dystonia Parkinsonism

Dystonia, Type 16
Developmental And Epileptic Encephalopathy 54

DEE54

Epileptic Encephalopathy, Early Infantile, 54

Eiee54

Developmental And Epileptic Encephalopathy, 54

Early Infantile Epileptic Encephalopathy 54

Encephalopathy, Epileptic, Early Infantile, Type 54
Exotropia

Divergent Concomitant Strabismus

Divergent Strabismus

Divergent Squint

External Strabismus

Xt - [Exotropia]
Glutathione Synthetase Deficiency

5-Oxoprolinuria

Pyroglutamic Aciduria

Pyroglutamicaciduria

Glutathione Synthetase Deficiency With 5-Oxoprolinuria

GSSD

Oxoprolinase Deficiency

5-Oxoprolinemia

Deficiency Of Glutathione Synthase

Deficiency Of Glutathione Synthetase

Pyroglutamic Acidemia

GSS DEFICIENCY

Gluthathione Synthetase Deficiency

5-Oxoprolinase Deficiency
Mandibulofacial Dysostosis, Guion-Almeida Type

Mandibulofacial Dysostosis With Microcephaly

Mandibulofacial Dysostosis-Microcephaly Syndrome

MFDGA

MFDM

Mfdm Syndrome

Growth And Mental Retardation, Mandibulofacial Dysostosis, Microcephaly, And Cleft Palate

Growth Delay - Intellectual Disability - Mandibulofacial Dysostosis - Microcephaly - Cleft Palate

Growth Delay-Intellectual Disability-Mandibulofacial Dysostosis-Microcephaly-Cleft Palate Syndrome

Dysostosis, Mandibulofacial, Guion-Almeida Type
Syndromic X-Linked Intellectual Disability Shashi Type

Mental Retardation, X-Linked, Syndromic 11, Shashi Type

Mrxs11

Shashi X-Linked Mental Retardation Syndrome

Smrxs

Syndromic X-Linked Intellectual Disability Type 11

X-Linked Mental Retardation Shashi Type

Mental Retardation, X-Linked, Syndromic 11
Miles-Carpenter Syndrome

X-Linked Intellectual Disability, Miles-Carpenter Type

Mcs

Mental Retardation, X-Linked, Syndromic 4

Mental Retardation, X-Linked, With Congenital Contractures And Low Fingertip Arches

Mrxs4

Miles-Carpenter X-Linked Mental Retardation Syndrome
Coffin-Siris Syndrome 1

Coffin-Siris Syndrome

Fifth Digit Syndrome

Css

CSS1

Mrd12

Mental Retardation, Autosomal Dominant 12

Hhid

Dwarfism-Onychodysplasia

Hypertrichosis, Hyperkeratosis, Mental Retardation, And Distinctive Facial Features

Autosomal Dominant Mental Retardation 12

Short Stature-Onychodysplasia.

Intellectual Disability With Absent Fifth Fingernail And Terminal Phalanx

Mental Retardation With Hypoplastic Fifth Fingernails And Toenails

Short Stature-Onychodysplasia

Coffin-Siris Syndrome, Type 1

Mental Retardation, Autosomal Dominant, Type 12
Syndromic X-Linked Intellectual Disability

X-Linked Syndromic Intellectual Disability
Syndromic Intellectual Disability
Strabismus

Strabismus, Susceptibility To

Strabismus, Susceptibility To, 1

Strabismus 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

Related Agents

Pre-clinical Phase
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS04716 FAM50A Human Pre-designed siRNA Set A / Unkown

Orthologs Information

Species Symbol Source ID
Felis catus FAM50A VGNC VGNC:62116
Bos taurus FAM50A VGNC VGNC:28820
Mus musculus FAM50A MGD MGI:1351626
Rattus norvegicus FAM50A RGD RGD:1560964
Macaca mulatta FAM50A VGNC VGNC:72298
Canis familiaris FAM50A VGNC VGNC:40687