MAMLD1 - mastermind like domain containing 1 Gene

Homo sapiens

Also known as CG1; F18; HYSP2; CXorf6

Gene ID: 10046 | Gene type: protein coding

About MAMLD1

Cytogenetic location: Xq28 Genomic coordinates (GRCh38): X:150,361,572-150,514,173 (from NCBI)

This gene has 11 transcripts (splice variants), 143 orthologues and is associated with 4 phenotypes. Broad expression in testis (RPKM 8.2), ovary (RPKM 6.7) and 22 other tissues.

Summary

This gene encodes a mastermind-like domain containing protein. This protein may function as a transcriptional co-activator. Mutations in this gene are the cause of X-linked hypospadias type 2. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Apr 2010]

MAMLD1 Products(7)

mRNA	Protein	Name
NM_001177465.3	NP_001170936.1	mastermind-like domain-containing protein 1 isoform 1
NM_001177466.3	NP_001170937.1	mastermind-like domain-containing protein 1 isoform 3
NM_001400512.1	NP_001387441.1	mastermind-like domain-containing protein 1 isoform 4
NM_001400513.1	NP_001387442.1	mastermind-like domain-containing protein 1 isoform 5
NM_001400514.1	NP_001387443.1	mastermind-like domain-containing protein 1 isoform 6
NM_001400515.1	NP_001387444.1	mastermind-like domain-containing protein 1 isoform 2
NM_005491.5	NP_005482.2	mastermind-like domain-containing protein 1 isoform 2

Protein Preferred Names

Protein Names

mastermind-like domain-containing protein 1

Related Diseases

Diseases

Alias

Hypospadias 2, X-Linked

HYSP2

Hypospadias, Type 2, X-Linked

46,Xy Ovotesticular Disorder Of Sex Development

46,Xy Ovotesticular Dsd

Non-Syndromic Posterior Hypospadias

Hypospadias, Severe Form

Perineal, Scrotal Or Penoscrotal Hypospadias

Hypospadias

Hypospadias Familial

Familial Hypospadias

Myotubular Myopathy With Abnormal Genital Development

X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome

Xq28 Contiguous Gene Deletion Syndrome

Childhood Supratentorial Ependymoma

Paediatric Cerebral Ependymoma	Paediatric Supratentorial Ependymoblastoma
Paediatric Supratentorial Ependymoma	Pediatric Cerebral Ependymoma
Pediatric Supratentorial Ependymoblastoma	Pediatric Supratentorial Ependymoma

Androgen Insensitivity Syndrome

Androgen Resistance Syndrome	AIS
Testicular Feminization Syndrome	Androgen Receptor Deficiency
Dhtr Deficiency	Dihydrotestosterone Receptor Deficiency
Ar Deficiency	Testicular Feminization
Tfm	Androgen Insensitivity
Androgen-Insensitivity Syndrome	Goldberg-Maxwell Syndrome
Complete Androgen Insensitivity Syndrome	Cais
Feminisation - Testicular	Goldberg - Maxwell Syndrome
Androgen Insensitivity Syndrome, Complete	Morris Syndrome
Ary	AR
Insensitivity Syndrome, Androgen	Androgen Insensitivity Nos

Fraser Syndrome 2

FRASRS2

Supratentorial Ependymoma

Rela Fusion-Positive Ependymoma

Supratentorial C11orf95-Rela Fused Ependymoma

C11orf95 Fusion-Positive Supratentorial Ependymoma

High Grade Ependymoma

Ependymal Neoplasm	Ependymal Tumors
Malignant Ependymoma	Ependymal Tumor
Anaplastic Ependymoma	Experimental Organism Malignant Ependymoma
Ependymoma Of Brain

Cerebral Ventricle Cancer

Cerebral Ventricle Neoplasms	Cerebral Ventricle Neoplasm
Intraventricular Tumor Of Brain

Astroblastoma, Mn1-Altered

Cns High-Grade Neuroepithelial Tumors With Mn1 Alteration

Supratentorial Cancer

Supratentorial Neoplasms	Brain Neoplasm, Supratentorial
Malignant Supratentorial Tumor	Cancer, Supratentorial

Cerebrum Cancer

Cerebral Cancer	Neoplasm Of Cerebrum
Tumor Of Cerebrum	Malignant Neoplasm Of Cerebrum

Tanycytic Ependymoma

Eccrine Acrospiroma

Acrospiroma	Poroma
Eccrine Hidradenoma	Eccrine Hidradenoma Of Skin
Hidradenoma	Adenoma, Sweat Gland
Benign Neoplasm Of Sweat Gland	Eccrine Poroma

Eccrine Sweat Gland Neoplasm

Eccrine Skin Neoplasm	Eccrine Tumor
Eccrine Neoplasm	Malignant Eccrine Neoplasm

Freemartinism

Astroblastoma

Cerebral Astroblastoma

Anaplastic Ependymoma

Ependymoma, Anaplastic

Undifferentiated Ependymoma

Eccrine Porocarcinoma

Porocarcinoma	Eccrine Porocarcinoma Of Skin
Malignant Eccrine Poroma

Childhood Ependymoma

Myxopapillary Ependymoma

Ependymoma Myxopapillary

Androgen Insensitivity, Partial

Partial Androgen Insensitivity Syndrome	Reifenstein Syndrome
PAIS	Androgen Insensitivity, Partial, With Or Without Breast Cancer
Familial Incomplete Male Pseudohermaphroditism, Type 1	Androgen Insensitivity Syndrome, Partial
Androgen Resistance Syndrome, Partial	Reifenstein Syndrome, Partial
Partial Androgen Resistance Syndrome	Androgen Insensitivity Partial With Or Without Breast Cancer
Androgen Insensitivity Syndrome Partial	Insensitivity Syndrome, Androgen, Partial, With/Without Breast Cancer Syndrome

Eccrine Sweat Gland Cancer

Malignant Eccrine Skin Neoplasm

Malignant Eccrine Tumor

Preaxial Deficiency, Postaxial Polydactyly, And Hypospadias

Guttmacher Syndrome	Preaxial Deficiency, Postaxial Polydactyly And Hypospadias
Autosomal Dominant Preaxial Deficiency, Postaxial Polydactyly, And Hypospadias	Preaxial Deficiency-Postaxial Polydactyly-Hypospadias Syndrome
GUTTS

Myopathy, Centronuclear, X-Linked

X-Linked Myotubular Myopathy	Xlmtm
X-Linked Centronuclear Myopathy	Xlcnm
CNMX	Mtm1
Myotubular Myopathy, X-Linked	Mtmx
Myotubular Myopathy 1	Centronuclear Myopathy X-Linked
Myotubular Myopathy	Mtm
Cnm	Xmtm
Myotubular Myopathy Type 1

Cryptorchidism, Unilateral Or Bilateral

Cryptorchidism	Undescended Testicle
Undescended Testis	Cryptorchism
Undescended Testicles	CRYPTO
Impaired Testicular Descent	Cryptosporidiosis
Retained Testis	Unilateral Cryptorchidism
Unilateral Undescended Testis	Nondescent Unilateral Testicle
Unilateral Cryptorchism	Ectopic Testis, Unilateral
Bilateral Cryptorchidism	Bilateral Cryptorchism
Bilateral Nondescent Testicle	Bilateral Undescended Testes
Bilateral Ectopic Testes

Centronuclear Myopathy

Myopathy, Centronuclear	Myotubular Myopathy
Cnm	Myopathy, Myotubular
Congenital Structural Myopathy

Persistent Mullerian Duct Syndrome

Persistent Müllerian Duct Syndrome	Pmds
Persistent Oviduct Syndrome	Persistent Muellerian Duct Syndrome
Female Genital Ducts In Otherwise Normal Male	Hernia Uteri Inguinale
Persistent Mullerian Duct Syndrome, Types 1 And 2	Persistent Mullerian Derivatives

Disorder Of Sexual Development

Disorder Of Sex Development	Disorders Of Sex Development
Sex Development Disorder	Sex Differentiation Disease
Dsd	Sex Differentiation Disorders

Myopathy

Muscular Diseases

Myopathies

46,Xy Sex Reversal

Swyer Syndrome	Pure Gonadal Dysgenesis 46,Xy
Gonadal Dysgenesis, Xy Female Type	Gonadal Dysgenesis, 46,Xy
46,Xy Cgd	46,Xy Complete Gonadal Dysgenesis
46,Xy Pure Gonadal Dysgenesis	46 Xy Gonadal Dysgenesis
46, Xy Cgd	46, Xy Complete Gonadal Dysgenesis
46, Xy Pure Gonadal Dysgenesis	Xy Pure Gonadal Dysgenesis
Female With 46,Xy Karyotype	Xy Females

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-RS08002	MAMLD1 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	MAMLD1	MGD	MGI:3045303
Bos taurus	MAMLD1	VGNC	VGNC:56928